American Journal of Medical Genetics Part A最新文献

{"title":"A Novel Homozygous Nonsense Variant in DCHS1 in a Brazilian Patient With Van Maldergem Syndrome Type 1: Clinical Report and Literature Review.","authors":"Gabriela Roldão Correia-Costa, Bruna Fagundes Rodrigues Alaite, Vera Lúcia Gil-da-Silva-Lopes, Carlos Eduardo Steiner, Társis Paiva Vieira","doi":"10.1002/ajmg.a.70333","DOIUrl":"https://doi.org/10.1002/ajmg.a.70333","url":null,"abstract":"<p><p>Van Maldergem syndrome (VMLDS) is an ultra-rare autosomal recessive disorder characterized by craniofacial dysmorphism, intellectual disability, hypotonia, skeletal anomalies, and feeding difficulties. It is caused by biallelic variants in DCHS1 or FAT4 genes. Fewer than 20 molecularly confirmed cases of VMLDS have been reported, and only a small subset involves DCHS1. We report a Brazilian male patient presenting with clinical features consistent with VMLDS, including neonatal hypotonia, Pierre Robin sequence, craniofacial dysmorphisms, camptodactyly, interphalangeal webbing, joint laxity, and hydrocephalus. Whole-exome sequencing identified a novel homozygous nonsense variant NM_003737.4(DCHS1):c.9655A>T:p.(Lys3219Ter), located in the final coding exon, classified as likely pathogenic. This report contributes to the phenotypic and molecular characterization of this ultra-rare disorder.</p>","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":""},"PeriodicalIF":1.7,"publicationDate":"2026-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149190726","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Biallelic PAX6 Variants in an Adult With Severe Microphthalmia and Preserved Intellectual Function.","authors":"Karl De Geer, Britt-Marie Anderlid, Lena Jacobson, Daniel Martín Muñoz, Erik Björck","doi":"10.1002/ajmg.a.70330","DOIUrl":"https://doi.org/10.1002/ajmg.a.70330","url":null,"abstract":"<p><p>PAX6 encodes a dosage-sensitive transcription factor that is essential for eye development. Heterozygous PAX6 disease is well characterized, but biallelic disease is extremely rare and has been associated with anophthalmia, severe brain malformations, and perinatal lethality. Here we report the first adult patient with biallelic pathogenic PAX6 variants and describe a novel phenotype that includes severe microphthalmia, anosmia, and autism spectrum disorder, Level 1. Notably, intellectual function was preserved. Genome sequencing revealed compound heterozygosity for the missense variant c.622C>T p.(Arg208Trp), inherited from the patient's mother diagnosed with sclerocornea and iris hypoplasia, and the nonsense variant c.718C>T p.(Arg240*), inherited from the patient's father diagnosed with aniridia. We compare the phenotype and genotype with previously reported biallelic patients and observe that the neurological phenotype of the patient fits the pattern observed in PAX6 haploinsufficiency. We propose that the severe microphthalmia is the result of haploinsufficiency and a hypomorphic, eye-restricted effect of the missense variant, which is predicted to affect the DNA-binding homeodomain of PAX6. Together, these findings expand the phenotypic spectrum of biallelic PAX6 disease and suggest that the homeodomain may have a tissue-specific role that is critical for eye development but largely dispensable for brain development.</p>","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":""},"PeriodicalIF":1.7,"publicationDate":"2026-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149190314","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"First Report of Biallelic NPPC Variants Causing Acromesomelic Type of Short Stature.","authors":"Deepak Amalnath, Shreya Rajagopal, Chandan Akkadka","doi":"10.1002/ajmg.a.70331","DOIUrl":"https://doi.org/10.1002/ajmg.a.70331","url":null,"abstract":"<p><p>C-type natriuretic peptide (CNP) increases chondrocyte maturation and growth of long bones by acting on its receptor NPR-B. Increased activity of CNP and NPR-B has been reported to cause tall stature while decreased activity of NPR-B causes short stature. Monoallelic loss-of-function variants in NPPC, which codes for CNP, have been reported in patients with idiopathic short stature. We report a patient with acromesomelic type of short stature due to biallelic missense variants in NPPC which codes for CNP.</p>","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":""},"PeriodicalIF":1.7,"publicationDate":"2026-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149206489","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reframing Trisomy 13 and 18 Care: Moving Beyond the Myth of \"Incompatibility With Life\" in a South African and Low-and Middle-Income Country Context.","authors":"H L Malherbe, M Araujo, L Balimba, J A Joshi, P Makhetha, M Meiring, M T Mpe, D Reddy, B Shingwenyana, J C Carey","doi":"10.1002/ajmg.a.70328","DOIUrl":"https://doi.org/10.1002/ajmg.a.70328","url":null,"abstract":"<p><p>Trisomy 13 (T13) and trisomy 18 (T18) have historically been described as \"lethal\" or \"incompatible with life,\" contributing to diagnosis-based limitations of care. Contemporary evidence demonstrates greater heterogeneity in survival and outcomes than previously recognized, including among selected children receiving intensive care or cardiac surgery. Parental perspectives further challenge assumptions that quality of life and benefit can be inferred from diagnosis alone. This Commentary draws on contemporary evidence and multidisciplinary stakeholder discussions convened in Johannesburg in August 2025 to consider the implications for South Africa and comparable resource-constrained settings. South African pathways are shaped by inequities between public and private healthcare, uneven access to prenatal screening and diagnosis, limited specialist capacity, variable referral and care coordination, and the absence of nationally standardized T13/T18-specific guidance. Published local evidence on survival, intervention and family experiences remains limited. We argue that T13/T18 should be approached as medically complex and potentially life-limiting conditions requiring transparent, individualized and proportionate decision-making rather than predetermined non-intervention. Priorities include strengthened professional training, coordinated multidisciplinary referral pathways, balanced counselling and shared decision-making, integration of palliative care alongside disease-directed care, regional centers of expertise, improved data generation, rights-aligned governance and contextually appropriate adaptation of international guidance.</p>","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":""},"PeriodicalIF":1.7,"publicationDate":"2026-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149190503","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Novel Compound Heterozygous ATAD3A Variants in Harel-Yoon Syndrome With Congenital Cataracts and Dilated Cardiomyopathy.","authors":"Tingting Wen, Hongyu Chen, Lan Yu, Xianghong Zhang","doi":"10.1002/ajmg.a.70327","DOIUrl":"https://doi.org/10.1002/ajmg.a.70327","url":null,"abstract":"<p><p>Harel-Yoon syndrome is a rare mitochondrial disorder caused by pathogenic variants in ATAD3A, typically characterized by neonatal respiratory insufficiency, cataracts, developmental delay, hypotonia, and cerebellar atrophy. We report a pediatric patient with compound heterozygous missense variants in ATAD3A (c.655C>T, p.R219C and c.980G>C, p.R327P) who presented with an atypical phenotype manifested as early-onset congenital cataracts and progressive dilated cardiomyopathy. Notably the patient did not show typical neurological manifestations nor the cardiac presentations of hypertrophic cardiomyopathy. The maternally inherited c.655C>T variant was absent from population databases, while paternally inherited c.980G>C was previously associated with Harel-Yoon syndrome. In silico protein structure modeling demonstrated that the mutant ATAD3A hexamer showed a looser and more disorganized conformation compared to that of the wild-type, suggesting functional impairment. This case expands the phenotypic spectrum of ATAD3A-related disorders and highlights the importance of long-term surveillance in patients with ATAD3A variants, even in the absence of classical neurological features. In addition, our findings support the inclusion of ATAD3A in the genetic differential diagnosis for patients with congenital cataracts and cardiomyopathy.</p>","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":""},"PeriodicalIF":1.7,"publicationDate":"2026-10-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149165042","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature","authors":"Charles R. DiFalco,&nbsp;Aaron Williams,&nbsp;Claudia Soler-Alfonso,&nbsp;Emily Waskow,&nbsp;Elizabeth Mizerik,&nbsp;Fernando Scaglia,&nbsp;Chaya N. Murali","doi":"10.1002/ajmg.a.70213","DOIUrl":"10.1002/ajmg.a.70213","url":null,"abstract":"<p>Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to <i>NFU1</i> gene defects is an ultra-rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein. This disorder demonstrates variable clinical features including hypotonia, epileptic encephalopathy, respiratory failure, lactic acidosis, hyperglycinemia, and hemodynamic instability. One unique feature of this mitochondrial disorder is the common manifestation of pulmonary arterial hypertension (PAH), for which the pathophysiologic mechanism is not well defined to date. Here, we report a case of infantile-onset lactic acidosis, refractory epilepsy with encephalopathy, hyperglycinemia, and severe PAH in a patient who underwent rapid genome sequencing (GS) which identified compound heterozygous variants in <i>NFU1</i> consistent with a diagnosis of MMDS1. We additionally review the literature on published cases of MMDS1 including developments in the understanding of the intracellular impact of defective ISC proteins. Recent studies delineate a multifactorial pathogenesis including globally dysregulated energy metabolism, specific deficiencies in oxidative phosphorylation, and excess reactive oxygen species (ROS) production. A key difference between established animal models of this disorder and human cases published to date is that the previously described sex-based phenotype discrepancy in rats was not recapitulated in this review. Identification of the clinical combination of lactic acidosis, PAH, and hyperglycinemia during diagnostic evaluation should raise suspicion for a defect of the ISC pathway, and further investigations of the cellular pathophysiology of this disorder may provide insight into the phenotypic spectrum of human disease and potential therapeutic targets.</p>","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":"200 11","pages":"2409-2419"},"PeriodicalIF":1.7,"publicationDate":"2026-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ajmg.a.70213","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148025651","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Novel Splice Site Mutation in the RASA1 Gene Causing Rare Diffuse Gastrointestinal Vascular Malformations: A Case Report and Literature Review","authors":"Lang Wu,&nbsp;Shoubin Ning,&nbsp;Hongyu Chen,&nbsp;Baojie Wei,&nbsp;Bairong Li","doi":"10.1002/ajmga.70187","DOIUrl":"10.1002/ajmga.70187","url":null,"abstract":"<div>\u0000 \u0000 <p>RASA1-related disorders typically present as capillary malformation–arteriovenous malformation (CM-AVM) syndrome; visceral, especially diffuse gastrointestinal (GI) involvement has not previously been reported. We describe the first case of extensive GI vascular malformations caused by a novel RASA1 splice-site mutation. A 29-year-old man presented with 2-year intermittent hematochezia. Contrast-enhanced CT, double-balloon enteroscopy (DBE) and superior mesenteric angiography revealed diffuse vascular malformations throughout the small bowel and stomach. Targeted next-generation sequencing identified a heterozygous de-novo splice-donor mutation (NM_002890.3:c.1049+2T&gt;G) in intron 6 of RASA1, predicted to be pathogenic. An incidental likely-pathogenic heterozygous frameshift variant in MYBPC3 (NM_000256.3:c.989del, p.Pro330HisfsTer20) was also detected. ISSVA (International Society for the Study of Vascular Anomalies) classifies it as Capillary Malformation-Arteriovenous Malformation (CM-AVM) within Fast-flow Vascular Malformations. Multidisciplinary consultation concluded that the lesions were too extensive for curative resection; the patient was discharged for close surveillance with a plan for sirolimus trial and selective surgical, Interventional or endoscopic hemostasis as needed. This case expands the phenotypic spectrum of RASA1 loss-of-function variants to include diffuse GI vascular malformations. When young patients present with obscure GI bleeding and imaging suggests multifocal angiodysplasia, germline RASA1 analysis should be considered. Early molecular diagnosis facilitates family counseling, targeted surveillance, and personalized therapy.</p>\u0000 </div>","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":"200 11","pages":"2542-2546"},"PeriodicalIF":1.7,"publicationDate":"2026-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148051946","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Expanding the Utility of Exome Sequencing in Preventive and Population Genetics","authors":"Charilaos Kostoulas,&nbsp;Athanasia Sesse,&nbsp;Ioanna Bouba,&nbsp;Robert Najdecki,&nbsp;Spyridon Konitsiotis,&nbsp;Sofia Markoula,&nbsp;Ioannis Georgiou","doi":"10.1002/ajmg.a.70210","DOIUrl":"10.1002/ajmg.a.70210","url":null,"abstract":"<p>Carrier screening is a long-standing genetic testing process offered to at-risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X-linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study and tested by Exome sequencing (ES). Expanded carrier screening (ECS) was performed for 176 disorders that met the inclusion criteria of the ACMG and ACOG. Genes with single nucleotide variants (SNVs) identified with a carrier rate &gt; 1% for AR disorders included <i>HBB</i>, <i>CFTR</i>, <i>PMM2</i>, <i>NPHS2</i>, <i>GJB2</i>, <i>ACADM</i>, <i>ALDOB</i>, <i>MEFV</i>, <i>MKS1</i>, <i>NEB</i>, <i>PAH</i>, <i>ATM</i>, <i>CPT2</i>, <i>CYP21A2</i>, <i>AGXT</i>, <i>BBS1</i>, <i>CAPN3</i>, <i>COL4A4</i>, <i>DHCR7</i>, <i>GAA</i>, <i>IVD</i>, <i>LAMA2</i>, <i>SLC22A5</i>, <i>SLC26A4</i>, <i>USH2A</i>. For XL disorders, variants were detected in the <i>RS1</i> gene. ECS offers a wealth of information about SNVs related to AR and XL disorders in specified populations. The information obtained from ECS provides multiple advantages: (a) it identifies the most prominent risks in health care in a given population and contributes to the prevention of genetic disorders, (b) it enriches available databases with pathogenic or likely pathogenic SNVs, and (c) it records novel targets for molecular clinical genetic testing.</p>","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":"200 11","pages":"2433-2442"},"PeriodicalIF":1.7,"publicationDate":"2026-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ajmg.a.70210","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148051932","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neurodevelopmental Profile of Children With MARS1-Related Pulmonary Alveolar Proteinosis: A Cohort Study","authors":"Catherine Grosmaitre,&nbsp;Mathis Le Bellego,&nbsp;Nathalie Boddaert,&nbsp;Pauline Chaste,&nbsp;Alice Hadchouel","doi":"10.1002/ajmg.a.70216","DOIUrl":"10.1002/ajmg.a.70216","url":null,"abstract":"<div>\u0000 \u0000 <p>ImportancePulmonary alveolar proteinosis (PAP) is a rare pulmonary disorder characterized by alveolar surfactant accumulation leading to respiratory impairment. <i>MARS1</i> mutations lead to an early onset PAP associated in a setting of multi-organ involvement and respond to high-dose methionine supplementation. While pulmonary manifestations of <i>MARS1</i>-related PAP and their response to methionine are well documented, its potential impact on cognitive and adaptive functioning in pediatric patients remains poorly understood. Understanding the neurodevelopmental profile of children with <i>MARS1</i>-related PAP is essential for optimizing comprehensive care and long-term outcomes. ObjectiveTo characterize the neurodevelopmental profile of children with <i>MARS1</i>-related PAP by assessing intellectual functioning and adaptive behavior using standardized neuropsychological measures and parent-reported questionnaires. DesignObservational cohort study including 16 pediatric patients with <i>MARS1</i>-related PAP aged 14 months to 7.3 years, followed at the Necker-Enfants Malades Hospital (Paris, France) and treated with methionine. Intellectual functioning was assessed using the Wechsler Preschool and Primary Scale of Intelligence, Fourth Edition (WPPSI-IV) when age-appropriate, and adaptive behavior was evaluated via the Vineland Adaptive Behavior Scales, Second Edition (VABS-II) through parent interviews. ResultsSixteen children with <i>MARS1</i>-related PAP underwent the full evaluation. Methionine was started at a median age of 6 months (IQR [5, 15]). Eight of them were able to undergo the WPPSI-IV assessment. The mean Full-Scale IQ was 72.25 (SD = 16.85), indicating borderline to mild intellectual disability relative to normative data. Adaptive behavior composite scores on the VABS-II averaged 69.75 (SD = 23.58), reflecting significant deficits across communication, daily living skills, socialization, and motor domains. The neurodevelopmental impairments were relatively homogeneous across the cohort. ConclusionsChildren with <i>MARS1</i>-related pulmonary alveolar proteinosis exhibit marked impairments in intellectual and adaptive functioning, suggesting a consistent neurodevelopmental profile associated with the disease, and despite methionine supplementation. These findings highlight the need for routine cognitive and developmental monitoring in pediatric PAP patients and support the development of multidisciplinary interventions addressing both respiratory and neurodevelopmental outcomes.</p>\u0000 </div>","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":"200 11","pages":"2500-2506"},"PeriodicalIF":1.7,"publicationDate":"2026-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148238443","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Disparities in Diagnostic Yield of Genetic Testing in Children and Adolescents With Vascular Malformations and/or Overgrowth: A Single Site Experience","authors":"Janette diMonda,&nbsp;Rana Al-Jaberi,&nbsp;Mustafa A. Khader,&nbsp;Taylor Pio,&nbsp;Michael Briones,&nbsp;Anne Gill,&nbsp;C. Matthew Hawkins,&nbsp;Alyssa Kesselman,&nbsp;Jay Shah,&nbsp;Michael White,&nbsp;Rossana Sanchez-Russo","doi":"10.1002/ajmg.a.70225","DOIUrl":"10.1002/ajmg.a.70225","url":null,"abstract":"<div>\u0000 \u0000 <p>Genotyping in patients with vascular malformations and/or somatic overgrowth guides precision treatment and is often required for insurance approval of targeted medications. Despite commonly accepted guidelines, uniform implementation of genetic testing in this population is hindered by practical challenges in the clinical setting. Here we compare the molecular diagnostic yield as a function of biopsy source, specifics of genetic testing, and type of insurance. We conducted a retrospective chart review of patients who had genetic testing performed at various commercial or academic laboratories on a biopsy for vascular malformations and/or somatic overgrowth. Diagnostic yield was compared by specimen type, depth of coverage (DOC), and billing method. 70 genetic tests were reviewed for 56 patients. High DOC testing yielded a significantly higher diagnostic rate of 74.3% compared to 20.0% in low DOC testing (<i>p</i> &lt; 0.001). Core biopsies (vs. skin punch) and tests utilizing private insurance/institutional billing (vs. Medicaid) also showed a higher diagnostic yield. In the clinical setting, patients reliant on low DOC commercial testing due to insurance barriers face significantly lower diagnostic rates, underscoring a clear inequity in diagnostic outcomes and demonstrating a need for improved testing access.</p>\u0000 </div>","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":"200 11","pages":"2492-2499"},"PeriodicalIF":1.7,"publicationDate":"2026-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148215964","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}