Case Reports in Genetics最新文献_第4页

Rare Presentation of Homozygous SLC20A2 Mutations Causing Intra-Arterial Cerebral Vasculopathy and Stroke in Infancy: Case Report and Review of the Literature. 罕见的纯合子SLC20A2突变引起婴儿动脉内脑血管病和中风：病例报告和文献复习。

Case Reports in Genetics Pub Date : 2025-12-26 eCollection Date: 2025-01-01 DOI: 10.1155/crig/1587968

Laila Baker, Faisal Hadid, Sara Salahaldeen Irshaidat, Sondos Altaraqji, Ruba Benini, Farouq Thabet, Rana Al Shami, Husam Kayyali, Rehab Al Saleh, Tawfeg Ben Omran, Jehan Al Rayyahi, Ahmed El Beltagi, Baha Juma, Khalid Ibrahim

{"title":"Rare Presentation of Homozygous SLC20A2 Mutations Causing Intra-Arterial Cerebral Vasculopathy and Stroke in Infancy: Case Report and Review of the Literature.","authors":"Laila Baker, Faisal Hadid, Sara Salahaldeen Irshaidat, Sondos Altaraqji, Ruba Benini, Farouq Thabet, Rana Al Shami, Husam Kayyali, Rehab Al Saleh, Tawfeg Ben Omran, Jehan Al Rayyahi, Ahmed El Beltagi, Baha Juma, Khalid Ibrahim","doi":"10.1155/crig/1587968","DOIUrl":"10.1155/crig/1587968","url":null,"abstract":"Primary familial basal ganglia calcification (PFBC), also known as Fahr's disease, is a rare neurodegenerative condition characterized by bilateral calcifications in the basal ganglia and other brain regions. While it predominantly presents in adulthood and is commonly associated with heterozygous mutations, rare homozygous pathogenic variants may lead to severe early-onset manifestations. We present a unique case of PFBC in a 2-month-old female infant who exhibited focal motor seizures shortly after routine immunization. Neuroimaging revealed bilateral basal ganglia calcifications, multifocal cerebral infarcts, and evidence of significant intra-arterial cerebral vasculopathy. Genetic testing confirmed a homozygous pathogenic variant in the SLC20A2 gene (c.1399 C > T) (p.R467∗). Notably, both consanguineous parents were heterozygous carriers of the same mutation. Other family members across two generations also harbored heterozygous variants but were asymptomatic. This case is one of the few reported instances of a homozygous SLC20A2 pathogenic variant and the second to demonstrate intra-arterial vasculopathy in infancy. The clinical spectrum included seizures, hypotonia, poor feeding, and extensive ischemic changes. Despite supportive care and antiepileptic therapy, the patient remained neurologically impaired. This report underscores the importance of considering PFBC in the differential diagnosis of infantile seizures, especially in populations with high rates of consanguinity. It also expands the phenotypic spectrum of SLC20A2-related disease to include infantile stroke due to cerebral vasculopathy. Early diagnosis and genetic counseling are essential for management and family planning.","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":"2025 ","pages":"1587968"},"PeriodicalIF":0.0,"publicationDate":"2025-12-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12741684/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145850215","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

MCT8 Deficiency in Two Brothers With a Novel Deletion Mutation in SLC16A2. SLC16A2中新缺失突变的两兄弟MCT8缺陷

Case Reports in Genetics Pub Date : 2025-12-15 eCollection Date: 2025-01-01 DOI: 10.1155/crig/5589985

Andrea A Arcari, María Eugenia Rodríguez, Romina Armando, María Sol Ayuso, Matias T De Iuliis La Torre, Marina Szlago

{"title":"MCT8 Deficiency in Two Brothers With a Novel Deletion Mutation in SLC16A2.","authors":"Andrea A Arcari, María Eugenia Rodríguez, Romina Armando, María Sol Ayuso, Matias T De Iuliis La Torre, Marina Szlago","doi":"10.1155/crig/5589985","DOIUrl":"10.1155/crig/5589985","url":null,"abstract":"Background: Monocarboxylate transporter 8 (MCT8) deficiency, also known as Allan-Herndon-Dudley syndrome, is a rare X-linked genetic disorder resulting from pathogenic mutations in the SLC16A2 gene. MCT8 deficiency impacts the transport of thyroid hormone (TH) throughout the body. Symptoms are highly heterogeneous and often include severe neurodevelopmental delay, hypotonia in the limbs and trunk, and low body weight.Case presentation: This case report describes the diagnostic journey of two brothers born 1 year and 8 months apart to nonconsanguineous parents. Both exhibited severely limited motor development, quadriparesis, and an inability to sit independently or hold their head up. Despite their significant clinical presentations, the diagnoses were delayed: 12 years and 8 months for Case 1 and 8 years and 3 months for Case 2. Genetic testing revealed that both patients carry the same novel SLC16A2 mutation, 960_995del (p.Tyr321_Ala332del). Although they displayed key clinical features of MCT8 deficiency, the TH profile of Case 1 was inconclusive, lacking the characteristic sustained elevation of triiodothyronine (T3) typically associated with MCT8 deficiency.Conclusions: Findings from this case report highlight the need for greater awareness of this disorder and underscore the clinical heterogeneity of MCT8 deficiency.","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":"2025 ","pages":"5589985"},"PeriodicalIF":0.0,"publicationDate":"2025-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12721745/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145821234","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A Complex Chromosome Rearrangement Disrupting SYT1 Supports Haploinsufficiency as a Cause of Baker-Gordon Syndrome. 破坏SYT1的复杂染色体重排支持单倍性不足作为贝克-戈登综合征的原因。

Case Reports in Genetics Pub Date : 2025-12-15 eCollection Date: 2025-01-01 DOI: 10.1155/crig/6652420

Débora Romeo Bertola, Sofia de Oliveira Farias, Silvia Souza da Costa, Mara Maria Lisboa Santana Pinheiro, Maria Rita Dos Santos Passos-Bueno, Carla Rosenberg, Ana Cristina Victorino Krepischi

{"title":"A Complex Chromosome Rearrangement Disrupting SYT1 Supports Haploinsufficiency as a Cause of Baker-Gordon Syndrome.","authors":"Débora Romeo Bertola, Sofia de Oliveira Farias, Silvia Souza da Costa, Mara Maria Lisboa Santana Pinheiro, Maria Rita Dos Santos Passos-Bueno, Carla Rosenberg, Ana Cristina Victorino Krepischi","doi":"10.1155/crig/6652420","DOIUrl":"10.1155/crig/6652420","url":null,"abstract":"Baker-Gordon syndrome (BAGOS) is an autosomal dominant neurodevelopmental disorder caused by de novo heterozygous missense mutations in SYT1. The precise pathogenic mechanism of BAGOS is still unclear, with preliminary data favoring a dominant-negative effect, although a previous case presenting a reciprocal translocation disrupting SYT1 supports haploinsufficiency as a possible mechanism. We report a child with a syndromic neurodevelopmental disorder compatible with BAGOS and carrying a t(5; 12)(q31; q21) by G-banded karyotype. Optical genome mapping (OGM) is based on ultrahigh molecular weight DNA molecules allowing the combined analyses of numerical and structural chromosome variants. The rearrangement was investigated using OGM, which revealed an additional structural variant, a paracentric inversion in the segment of Chromosome 12 translocated to der(5). The breakpoint of the paracentric inversion is mapped to Intron 9 of the SYT1 gene, interrupting the C2B domain. This is the second BAGOS case reported in the literature caused by SYT1 disruption, supporting that reduced amounts of functional SYT1, either by haploinsufficiency or dominant-negative effect, is responsible for SYT1-associated neurodevelopmental syndrome.","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":"2025 ","pages":"6652420"},"PeriodicalIF":0.0,"publicationDate":"2025-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12721761/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145821218","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Diaphragmatic Hernia in a Newborn With COL1A1-Associated Classical Ehlers-Danlos Syndrome. 新生儿col1a1相关经典ehers - danlos综合征的膈疝。

Case Reports in Genetics Pub Date : 2025-11-27 eCollection Date: 2025-01-01 DOI: 10.1155/crig/5233998

Laven Anand, Michael J Munro, Ashalatha Shetty, John Dean, Judith Pagan, Jamie Campbell

{"title":"Diaphragmatic Hernia in a Newborn With COL1A1-Associated Classical Ehlers-Danlos Syndrome.","authors":"Laven Anand, Michael J Munro, Ashalatha Shetty, John Dean, Judith Pagan, Jamie Campbell","doi":"10.1155/crig/5233998","DOIUrl":"10.1155/crig/5233998","url":null,"abstract":"Diaphragmatic rupture is an uncommonly seen complication of classical Ehlers-Danlos syndrome (cEDS). There have been no documented cases of diaphragmatic hernia in newborns having cEDS. This case study discusses a male infant delivered through spontaneous vertex delivery to a mother with cEDS. No evidence of a diaphragmatic hernia was found 6 days before delivery when an ultrasound scan to monitor a ventricular septal defect was carried out. Postnatally, the infant displayed signs of severe respiratory distress. A chest radiograph revealed a diaphragmatic hernia. The surgical team found and corrected a small posterolateral diaphragmatic defect on the third day of life. This resulted in a good recovery following management of a complication of chylothorax. The mother was known to have cEDS and bidirectional sequencing of the patient's lymphocyte DNA detected the heterozygous pathogenic familial variant COL1A1 c.934C > T;p.(Arg312Cys). This variant has been previously reported in cases of cEDS. Other COL1A1 variants are known to be associated with arthrochalasia-type EDS and osteogenesis imperfecta, but no COL1A1 variants have been associated previously with congenital diaphragmatic hernia or diaphragmatic rupture. The familial variant impacts the highly conserved arginine residue in the Gly-X-Y triplet motif of the Type-I collagen protein. It has been reported in various families as a rare cause of autosomal-dominant cEDS. This case report details the patient's journey, including images of radiographs, highlighting a rare but important complication of spontaneous vertex delivery for individuals with cEDS. We also include a literature review on diaphragmatic hernia and rupture in classical EDS.","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":"2025 ","pages":"5233998"},"PeriodicalIF":0.0,"publicationDate":"2025-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12677986/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145702182","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Long-Read Sequencing as a Diagnostic Tool for Primary Ciliary Dyskinesia. 长读序列作为原发性纤毛运动障碍的诊断工具。

Case Reports in Genetics Pub Date : 2025-11-26 eCollection Date: 2025-01-01 DOI: 10.1155/crig/5109434

Liora H Feshbach, Morgan Similuk, Laura M Amendola, Katie L Lewis, Magdalena A Walkiewicz, Mari Tokita, Rajarshi Ghosh, Andrew Lipton

{"title":"Long-Read Sequencing as a Diagnostic Tool for Primary Ciliary Dyskinesia.","authors":"Liora H Feshbach, Morgan Similuk, Laura M Amendola, Katie L Lewis, Magdalena A Walkiewicz, Mari Tokita, Rajarshi Ghosh, Andrew Lipton","doi":"10.1155/crig/5109434","DOIUrl":"10.1155/crig/5109434","url":null,"abstract":"Primary ciliary dyskinesia (PCD) is a rare, inherited disease resulting from abnormal structure and/or function of cilia. To date, pathogenic variants in over 50 genes have been reported as causes of PCD. One of the genes, HYDIN, presents a diagnostic challenge due to the existence of HYDIN2, a highly homologous pseudogene that significantly complicates accurate molecular diagnosis. Here, we present a 43-year-old female with a clinical diagnosis of PCD seeking molecular diagnosis underlying her disease. Short-read genome sequencing detected two potentially pathogenic HYDIN variants (c.5416C > T and c.3786-1G > T), but clinical validation was hindered due to the pseudogene overlap. Using clinical long-read genome sequencing (lrGS), we confirmed the presence of both HYDIN pathogenic variants and a trans configuration, establishing the molecular diagnosis for this patient. This case highlights the promise of lrGS in diagnosing HYDIN-related PCD and demonstrates that offering lrGS to PCD patients, especially those with suspected HYDIN variants, could enhance diagnostics, disease management, and genetic counseling.","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":"2025 ","pages":"5109434"},"PeriodicalIF":0.0,"publicationDate":"2025-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12674883/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145678777","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Kufor-Rakeb Syndrome in a Guatemalan Patient With an ATP13A2 Gene Pathogenic Variant: A Case Report. Kufor-Rakeb综合征在危地马拉患者与ATP13A2基因致病变异：一个病例报告。

Case Reports in Genetics Pub Date : 2025-11-18 eCollection Date: 2025-01-01 DOI: 10.1155/crig/6993134

Rebeca Méndez-Veras, Allan Urbizo, Julio Cabrera, Suzette Boburg

引用次数: 0

Identification of a Mosaic BMPR1A Pathogenic Variant in Juvenile Polyposis Syndrome: A Case Study and Its Impact on Cancer Screening. 鉴定少年息肉病综合征的马赛克BMPR1A致病变异：一个案例研究及其对癌症筛查的影响。

Case Reports in Genetics Pub Date : 2025-11-09 eCollection Date: 2025-01-01 DOI: 10.1155/crig/6578711

Kara Rogen, Lisa Boardman, Megan Bird

{"title":"Identification of a Mosaic BMPR1A Pathogenic Variant in Juvenile Polyposis Syndrome: A Case Study and Its Impact on Cancer Screening.","authors":"Kara Rogen, Lisa Boardman, Megan Bird","doi":"10.1155/crig/6578711","DOIUrl":"10.1155/crig/6578711","url":null,"abstract":"Juvenile polyposis syndrome (JPS) (MIM: 174900) is a rare genetic disorder characterized by multiple benign, hamartomatous polyps, and an increased risk for colorectal and gastric cancer. It is caused by pathogenic variants in SMAD4 and BMPR1A. We present the findings of a mosaic BMPR1A pathogenic variant in a 57-year-old patient with newly diagnosed colon cancer and a history of polyps, which were later discovered to be JPS polyps. The variant was first identified in a blood sample at approximately 15% allele frequency. Subsequent genetic testing performed on gDNA from cultured fibroblasts found this variant to be present at very low levels (< 10%). The finding of this BMPR1A variant in two sample types, as well as the history of JPS polyps, supports a diagnosis of JPS due to a mosaic BMPR1A pathogenic variant. This diagnosis affects cancer screening recommendations for our patient and his relatives. Our case highlights the need for recognition and workup of potentially mosaic cases and for universal germline genetic testing for patients with colorectal cancer.","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":"2025 ","pages":"6578711"},"PeriodicalIF":0.0,"publicationDate":"2025-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12620043/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145542763","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Identification of a Rare Variant in the SRD5A2 Gene in Siblings With 46,XY Disorders of Sexual Development. 患有46，xy性发育障碍的兄弟姐妹中SRD5A2基因罕见变异的鉴定

Case Reports in Genetics Pub Date : 2025-10-30 eCollection Date: 2025-01-01 DOI: 10.1155/crig/5546459

Leena Rawal, Deepak Panwar, Ravinder Kumar, Gaurav Sharma, Sumit Jangra, Reena Nakra, Vandana Lal, Vamshi Krishna Thamtam

{"title":"Identification of a Rare Variant in the SRD5A2 Gene in Siblings With 46,XY Disorders of Sexual Development.","authors":"Leena Rawal, Deepak Panwar, Ravinder Kumar, Gaurav Sharma, Sumit Jangra, Reena Nakra, Vandana Lal, Vamshi Krishna Thamtam","doi":"10.1155/crig/5546459","DOIUrl":"10.1155/crig/5546459","url":null,"abstract":"The SRD5A2 gene encodes the steroid 5α-reductase-2 isozyme, which converts testosterone to dihydrotestosterone and plays a key role in sexual development and androgen physiology. Deficiency of this enzyme leads to an autosomal recessive sex-linked disorder associated with ambiguous genitalia and hypovirilization/complete feminization of external genitalia in individuals with a 46,XY karyotype. The present study emphasizes the indispensable role of molecular genetic testing in siblings (Probands 1 and 2) presented with disorders of sexual development (DSD). The biochemical, cytogenetics, and molecular testing, encompassing hormonal testing, chromosomal analysis, fluorescence in situ hybridization (FISH), and whole exome sequencing (WES), were carried out at our National Reference Laboratory. In addition, Sanger sequencing confirmed the identified variant, and bioinformatics tools were used to assess its impact on protein structure and stability, thereby assessing its pathogenic potential. The biochemical profile revealed highly elevated testosterone/dihydrotestosterone in Probands 1 and 2 as 45.4 and 43.2, respectively (biological reference range < 10). The cytogenetic analysis confirmed a 46,XY karyotype, and FISH validated the presence of the SRY gene. WES identified a pathogenic homozygous variant, c.737G > A(p.Arg246Gln) in the SRD5A2 gene. Protein structure predictions and stability analyses indicated the variant's damaging effects. This study supports diagnosis through comprehensive molecular testing and highlights the significance of genetic insights in managing 46,XY DSD. This case highlights phenotypic variability in siblings with the same homozygous SRD5A2 variant from a nonconsanguineous Indian family, underscoring the need for early genetic workup and multidisciplinary evaluation in 46,XY DSD.","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":"2025 ","pages":"5546459"},"PeriodicalIF":0.0,"publicationDate":"2025-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12591823/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145483188","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Novel SIAH1 Frameshift Variant in a Chilean Patient With Buratti-Harel Syndrome. 一名智利Buratti-Harel综合征患者的新型SIAH1移码变异

Case Reports in Genetics Pub Date : 2025-10-27 eCollection Date: 2025-01-01 DOI: 10.1155/crig/8822406

Nicole Nakousi C, Catalina Nakousi M, Gabriela Perez C

引用次数: 0

RAPSN-Associated Congenital Myasthenic Syndrome due to Biallelic Single Nucleotide Variants at the Same Position. 由同一位置双等位基因单核苷酸变异引起的rapsn相关先天性肌无力综合征。

Case Reports in Genetics Pub Date : 2025-10-20 eCollection Date: 2025-01-01 DOI: 10.1155/crig/1882021

Laura Keehan, Jennefer N Carter, Elijah Kravets, Matthew T Wheeler, Jonathan A Bernstein, Ricardo A Maselli, Jacinda B Sampson, Suha Bachir

{"title":"RAPSN-Associated Congenital Myasthenic Syndrome due to Biallelic Single Nucleotide Variants at the Same Position.","authors":"Laura Keehan, Jennefer N Carter, Elijah Kravets, Matthew T Wheeler, Jonathan A Bernstein, Ricardo A Maselli, Jacinda B Sampson, Suha Bachir","doi":"10.1155/crig/1882021","DOIUrl":"10.1155/crig/1882021","url":null,"abstract":"Biallelic pathogenic variants in RAPSN cause a form of congenital myasthenic syndrome (CMS), which is typically characterized by fatiguable muscle weakness, hypotonia, and feeding difficulties that present in the neonatal period or early childhood. RAPSN-associated CMS can be treated with acetylcholinesterase inhibitors. Here, we present a 4-year-old male with a history of neonatal respiratory distress, hypotonia, and muscle weakness exacerbated by illness who underwent trio genome sequencing and was found to have biallelic single nucleotide variants at the same position in RAPSN, encoding NM_005055.5:c.264C > A p.(N88K) and NM_005055.5:c.264C > G p.(N88K). The paternally inherited c.264C > G variant has not been previously reported. Interestingly, only the maternally inherited c.264C > A variant was reported on the patient's prior clinical exome sequencing, which delayed diagnosis and initiation of treatment for this patient. This case highlights the complexity of identifying multiallelic variants during exome and genome sequencing analysis. Additionally, this case is the first report of facial malformations in a patient with RAPSN-associated CMS due to variants outside of the promoter region. Trial Registration: ClinicalTrials.gov identifier: NCT02450851.","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":"2025 ","pages":"1882021"},"PeriodicalIF":0.0,"publicationDate":"2025-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12558694/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145393694","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0