Molecular Syndromology最新文献

{"title":"Presentation of Pallister-Hall-Like Syndrome in a Girl with a Homozygous Rare Variant in the <i>SMO</i> Gene.","authors":"Mertcan Tan, Musa Turgut, Özmert Muhammed Ali Özdemir, Kadri Karaer","doi":"10.1159/000541401","DOIUrl":"10.1159/000541401","url":null,"abstract":"<p><strong>Introduction: </strong>Pallister-Hall-Like Syndrome (PHLS) (OMIM #241800), a rare ciliopathy associated with defects in the Sonic Hedgehog pathway, is characterized by postaxial polydactyly, hypothalamic hamartoma, cardiac and skeletal anomalies, and craniofacial dysmorphisms.</p><p><strong>Case report: </strong>This report describes a 3-day-old girl from a consanguineous family diagnosed with bilateral postaxial polydactyly and facial dysmorphism. Genetic analysis revealed a homozygous pathogenic c.1726 C>T; p.Arg576Trp variant in the <i>SMO</i> gene.</p><p><strong>Conclusion: </strong>Consanguineous marriage causes predisposition to ultra-rare conditions. There have been eleven documented cases of this ultra-rare syndrome. To our knowledge, this is the first reported case in Turkiye, enriching our clinical understanding of PHLS.</p>","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":"16 3","pages":"259-263"},"PeriodicalIF":0.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12136573/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144235634","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Blended Phenotypes of Sexual Development Disorder and Coenzyme Q10 Deficiency, Together with a Sibling with Homozygous Variants in the <i>AHI1</i> Gene.","authors":"Rumeysa Atasay, Leyla Nur Yilmaz, Ayten Gulec, Mehmet Canpolat, Huseyin Per, Fatih Kardas, Bilge Ozsait Selcuk, Birsen Karaman, Aslihan Kiraz, Munis Dundar","doi":"10.1159/000541717","DOIUrl":"10.1159/000541717","url":null,"abstract":"<p><strong>Introduction: </strong>In consanguineous marriages, different homozygous variants in a single gene may occur in the same family. This may lead to blended phenotypes. This study presents a family in which different rare mechanisms come together as a result of consanguineous marriage. Primary coenzyme Q10 deficiency is a very rare disease that occurs due to homozygous or compound heterozygous variants in the <i>COQ4</i> gene.</p><p><strong>Case presentation: </strong>A 2-year-old proband with a blended phenotype with sex development disorder and coenzyme Q (CoQ) 10 deficiency has psychomotor retardation, dysmorphic findings, hypotonia, micropenis, and bilateral cryptorchidism. The patient's cytogenetic analysis results were compatible with <i>SRY</i>-positive 46,XX sex reversal disease. In the subsequent whole-exome analysis, a c.437T>G (Phe146Cys) missense homozygous probable pathogenic variant was detected in the 5th exon of the <i>COQ4</i> gene (NM_016035) that explains other clinical findings. The brother of the index was previously deceased due to hydrocephalus and had a nonsense homozygous variant c.1051C>T p.(Arg351*) in the 7th exon of the <i>AHI1</i> gene (NM_001134830).</p><p><strong>Discussion: </strong>Alterations in exons 5-7 of the COQ4 gene manifest early in life, resulting in neonatal fatality and a more pronounced clinical trajectory. Conversely, mutations occurring in exons 1-4 emerge later and exhibit a less severe clinical progression. Interestingly, the c.437T>G variant within exon 5 of the COQ4 gene induces comparatively milder clinical symptoms, deviating from the documented cases in the literature. To our knowledge, there is no other reported case in the literature with a blended phenotype of a sexual development anomaly and primary CoQ10 deficiency.</p>","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":"16 3","pages":"271-277"},"PeriodicalIF":0.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12136569/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144235626","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation of Cardiomyopathy-Related Target Genes by Next-Generation Sequencing Method and Investigation of the Phenotype-Genotype Relationship.","authors":"Hazal Sezginer Guler, Drenushe Zhuri, Sinem Yalcintepe, Servet Altay, Murat Deveci, Selma Demir, Hanefi Yekta Gurlertop, Engin Atli, Emine İkbal Atli, Hakan Gurkan","doi":"10.1159/000542097","DOIUrl":"10.1159/000542097","url":null,"abstract":"<p><strong>Background: </strong>Primary heart muscle diseases called cardiomyopathy (CMP) constitute an important group of subsequent heart disorders. CMPs are basically divided into four subgroups associated with the heart muscle but clinically distinguishable: hypertrophic CMP (HCM), dilated CMP (DCM), restrictive CMP (RCM), and left ventricular non-compaction CMP.</p><p><strong>Material and methods: </strong>The results of the patients who applied to the Genetic Diseases Evaluation Center with the preliminary diagnosis of clinical CMP were evaluated retrospectively in the current study. In the current study, 103 cases were included and evaluated for phenotype-genotype association with the CMP next-generation sequencing (NGS) panel.</p><p><strong>Results: </strong>Fifty-eight different variants were identified in 45 patients. Sixteen out of those 58 variants were novel. Of these variants, 19 (32.75%) were likely pathogenic (LP)/pathogenic (P), and 35 (60.34%) were variants of uncertain significance.</p><p><strong>Conclusion: </strong>The prevalence of pathogenic variants in target genes associated with CMP is important for our current country's population, and multiple gene groups associated with CMP can be screened through NGS. The contribution rate to the clinical diagnosis was 18.44% in terms of the individual population who applied to our medical genetics center and were compatible with the CMP indication.</p>","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":"16 3","pages":"235-246"},"PeriodicalIF":0.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12136558/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144235632","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Ellis-Van Creveld Syndrome with Severe Mitral Valve Insufficiency Caused by a Homozygous Intragenic Deletion of the <i>EVC</i> Gene.","authors":"Abdulkerim Kolkiran, Tuğba Daşar, Elifcan Taşdelen, Özkan Kaya","doi":"10.1159/000541665","DOIUrl":"10.1159/000541665","url":null,"abstract":"<p><strong>Introduction: </strong>Ellis-Van Creveld syndrome is a rare genetic disorder characterised by skeletal abnormalities, cardiac anomalies, and findings of hidrotic ectodermal dysplasia. Cardiac anomalies are common in this syndrome and usually include an atrial septal defect when present. The disorder is caused by homozygous or compound heterozygous pathogenic variants in the <i>EVC</i> and <i>EVC2</i> genes. A small number of patients with Ellis-Van Creveld syndrome have also been found to have copy number variants associated with these two genes.</p><p><strong>Case presentation: </strong>A 13-year-old girl patient was referred to the paediatric genetic department with short stature, short extremities, operated post-axial polydactyly, nail hypoplasia, and severe mitral valve insufficiency. Chromosomal microarray analysis identified a 45 kb homozygous deletion encompassing exons 3-11 of the <i>EVC</i> gene at 4p16.2.</p><p><strong>Conclusion: </strong>Herein, we present a case with an intragenic deletion of the <i>EVC</i> gene and expand the clinical and genetic spectrum of Ellis-Van Creveld syndrome.</p>","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":"16 3","pages":"264-270"},"PeriodicalIF":0.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12136546/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144235630","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Colombian Boy with a Novel de novo <i>PURA</i> Variant: A Case Report.","authors":"Stiven Ernesto Sinisterra-Díaz, Diana Marcela Vasquez-Forero, Laura Ordoñez, Luis Eduardo Prieto, Harry Pachajoa","doi":"10.1159/000541654","DOIUrl":"10.1159/000541654","url":null,"abstract":"<p><strong>Introduction: </strong><i>PURA</i> syndrome is a neurodevelopmental disease caused by de novo pathogenic variants in <i>PURA</i> encoding the purine-binding element alpha protein. It is characterized by autosomal dominant inheritance and a heterogeneous phenotype.</p><p><strong>Case presentation: </strong>We describe a 7-year-old patient with history of congenital pneumonia, accompanied by hypotonia, convulsive episodes, poor sucking ability, neurodevelopmental delay. Physical examination revealed some dysmorphic features. Molecular analysis identified a de novo, heterozygous variant in <i>PURA</i> (NM_005859.5): c.692T>C; p.Phe231Ser, which was classified as pathogenic.</p><p><strong>Conclusion: </strong>In this report, we present a Colombian case of PURA syndrome. This case highlights the challenges associated with the early diagnosis of a newly described syndrome, in a limited-resources health system.</p>","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":"16 3","pages":"278-282"},"PeriodicalIF":0.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12136552/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144235598","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Opportunities and Challenges in the Molecular Mechanism Research of Congenital Heart Disease: A Review.","authors":"Mingwei Li, Shuangxing Wang, Hui Zhang, Bing Meng, Yongjie Wu","doi":"10.1159/000541266","DOIUrl":"10.1159/000541266","url":null,"abstract":"<p><strong>Background: </strong>Advanced molecular mechanism research incorporated with multidisciplinary collaborations on congenital heart disease has prompted new insight into its cause, development, and outcomes.</p><p><strong>Summary: </strong>This literature review aims to comprehensively examine the genetic molecular mechanisms of congenital heart disease and explain current prospects and challenges in this field. Through a systematic exploration of etiology, embryology, clinical outcomes, algorithms, and ethics, we seek to shed light on the path toward improved diagnostics, treatments, and outcomes for patients.</p><p><strong>Key message: </strong>Collaboration among genetic researchers, clinicians, data scientists, ethicists, and policymakers is crucial to address challenges and translate research findings into tangible benefits for CHD patients.</p>","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":"16 3","pages":"201-207"},"PeriodicalIF":0.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12136570/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144235635","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Distribution of Variants and Identification of Novel Variants in Patients with Obesity Using Next-Generation Sequencing in Genes Associated with Obesity: A Single-Center Experience in Turkey.","authors":"Ozlem Anlas, Ozge Ozalp, Suleyman Cetinkunar","doi":"10.1159/000541313","DOIUrl":"10.1159/000541313","url":null,"abstract":"<p><strong>Background: </strong>Obesity has become a common public health problem all over the world today. In recent years, studies on the genetic etiology of obesity have gained importance. As a result of these studies, 127 obesity-related loci have been identified.</p><p><strong>Objectives: </strong>The aim of this work was to screen obesity-related genes and review the literature.</p><p><strong>Methods: </strong>In this retrospective study, 41 obesity-related genes were screened in 116 patients by next-generation sequencing. These genes are <i>DYRK1B</i>, <i>LEP</i>, <i>LEPR</i>, <i>MC4R</i>, <i>NR0B2</i>, <i>POMC</i>, <i>UCP3</i>, <i>ADRB2</i>, <i>ADRB3</i>, <i>AGRP</i>, <i>MC3R</i>, <i>NTRK2</i>, <i>PCSK1</i>, <i>SIM1</i>, <i>CARTPT</i>, <i>ENPP1</i>, <i>PPARG</i>, <i>PPARGC1B, PYY</i>, <i>SDC3</i>, <i>UCP1</i>, <i>ADIPOQ</i>, <i>PBEF (NAMP)</i>, <i>ADN (CFD)</i>, <i>RETN</i>, <i>PGC1 (PPARGC1A)</i>, <i>CCK</i>, <i>NPY</i>, <i>GLUT4 (SLC2A4)</i>, <i>ADD1</i>, <i>SREBP1 (SREBF1)</i>, <i>PTP1B (PTPN1)</i>, <i>IRS-1</i>, <i>GHRL</i>, <i>BDNF</i>, <i>NEGR1, SH2B1</i>, <i>GIPR</i>, <i>TMEM18</i>, <i>FTO</i>, and <i>SLC22A1</i>.</p><p><strong>Results: </strong>Seventy-six of our patients were female, and 40 were male. As a result, 43 variants were detected in 39 (34.4%) patients. Of these, <i>GHRL</i> c.152G>A, <i>MC4R</i> c.496G>A, SH2B1 c.2083G>A, <i>GIPR</i> c.548G>A, <i>ADIPOQ</i> c.268G>A, and <i>BDNF</i> c.5C>T variants have been previously reported in the literature. In addition to the aforementioned variants, there are 37 novel variants that have not been previously reported. Among these, we classified the <i>UCP3</i> c.126 + 1G>T variant as \"Pathogenic\" according to the American College of Medical Genetics and Genomics (ACMG) criteria. Four of 37 novel variants, respectively, <i>ADRB2</i> c.1160_1163delTTGT (p.Phe387Trp*55), <i>MC4R</i> c.895C>T (p.Pro299Ser), <i>POMC</i> c.304C>T (p.Gln102*), and <i>NR0B2</i> c.265C>T (p.Gln89*), were classified as \"Likely Pathogenic.\" A total of 32 novel variants among 37 novel variants were categorized as variants of uncertain significance.</p><p><strong>Conclusions: </strong>Understanding the genetics of obesity is an essential step toward treating and preventing this disease, which has become a global health problem. With this study, we wanted to contribute to the literature by reporting previously reported and novel variants we detected in our patients with obesity.</p>","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":"16 3","pages":"208-215"},"PeriodicalIF":0.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12136547/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144235629","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association of MicroRNA-146a-5p Polymorphism with Cognitive Impairment in Adolescents with Depressive Disorder.","authors":"Chunping Xie, Qingting Hu, Chunhu Zhang, Kuancai Deng","doi":"10.1159/000542064","DOIUrl":"10.1159/000542064","url":null,"abstract":"<p><strong>Introduction: </strong>The incidence of depression in adolescents is increasing and is associated with severe cognitive impairment. This paper aimed to investigate the relationship between polymorphisms in microRNA-146a-5p (miR-146a-5p) and cognitive impairment in adolescent depression patients.</p><p><strong>Methods: </strong>Quantitative real-time polymerase chain reaction was used to quantify miR-146a-5p in serum. Detection of miR-146a-5p gene polymorphism was performed by TaqMan SNP Genotyping Assay. Odds ratios and 95% confidence intervals (CIs) were calculated by chi-square test (χ²) and logistic regression analysis.</p><p><strong>Results: </strong>Genotyping of miR-146a rs2910164 showed that CC (OR = 0.443, 95% CI, 0.264-0.741, <i>p</i> = 0.002) and GC (OR = 0.445, 95% CI, 0.279-0.712, <i>p</i> = 0.001) genotype reduced the risk of cognitive impairment in adolescent depression. The C allele (OR = 0.794, 95% CI, 0.694-0.741, <i>p</i> = 0.001) was a protective factor for cognitive impairment in adolescent depression compared to the rs2910164 G allele. Rs2910164 (OR = 0.425, 95% CI = 0.273-0.662, <i>p</i> = 0.000) showed a negative correlation with adolescents with cognitive impairment in depression by logistic regression analysis. The level of miR-146a-5p was decreased in carriers of the CC and CG genotypes.</p><p><strong>Conclusion: </strong>Rs2910164 C allele carriers have a low risk of cognitive impairment in adolescent depression and could reduce miR-146a-5p level.</p>","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":"16 3","pages":"216-222"},"PeriodicalIF":0.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12136548/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144235625","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Novel <i>HECW2</i> Variant (c.4354G>A; p. Gly1452Ser) in a Chinese Patient with Developmental Delay, Neurodevelopmental Delay, and Hypotonia.","authors":"Lan Zeng, Jing Nie, Shuyao Zhu, Jin Wang, Yi Deng, Hui Zhu, Xueyan Wang, Na Xi","doi":"10.1159/000545680","DOIUrl":"10.1159/000545680","url":null,"abstract":"<p><strong>Introduction: </strong>Neurodevelopmental disorders (NDDs) due to the <i>HECW2</i> (MIM:617245), the pathogenic variant, are extremely rare. HECW2-related disorder has been established through the identification of de novo variants in <i>HECW2</i> gene in patients with NDDs with hypotonia, seizures, and absent language.</p><p><strong>Case presentation: </strong>In this study, the clinical and genetic features of a Chinese girl with neurodevelopmental delay, developmental language disorder, and hypotonia are described. Trio whole exome sequencing revealed a novel likely pathogenic variant in <i>HECW2</i> (exon26: c.4354G>A; p. Gly1452Ser) in the patient, while the variant was absent in her parents with Sanger sequencing.</p><p><strong>Conclusion: </strong>Our objective was to identify the potential site of <i>HECW2</i>, combined with the literature review, to find the correlation between clinical phenotype and genotype.</p>","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":" ","pages":"1-8"},"PeriodicalIF":0.9,"publicationDate":"2025-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12133159/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144227222","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Novel <i>GATAD2B</i> Frameshift Variant Causes GATAD2B-Associated Neurodevelopmental Disorder with Camptodactyly.","authors":"Cheryl Weiqi Tan, Jiin Ying Lim, Khadijah Rafi'ee, Jeannette Goh, Chew Thye Choong, Sing Ming Chao, Benjamin Chang, Saumya S Jamuar, Ene-Choo Tan","doi":"10.1159/000545445","DOIUrl":"https://doi.org/10.1159/000545445","url":null,"abstract":"<p><strong>Introduction: </strong>GATAD2B-associated neurodevelopmental disorder (GAND) is caused by pathogenic variants in <i>GATAD2B</i> which encodes p66beta, a subunit of a transcription repressor. The main presentations of GAND are intellectual disability, speech impairment, and dysmorphism. However, these features overlap with other neurodevelopmental syndromes and are not specific enough to be recognised for a particular clinical diagnosis without molecular confirmation.</p><p><strong>Methods: </strong>Macrocephaly was detected prenatally and at birth. Postnatal brain MRI also revealed ventriculomegaly. Chromosomal microarray analysis and metabolites in plasma, serum, or urine were investigated due to microcephaly and dysmorphism, and all results were normal. Next-generation sequencing using a targeted gene panel did not identify any pathogenic variant. Exome sequencing was subsequently performed.</p><p><strong>Results: </strong>A heterozygous single nucleotide deletion in exon 5 of <i>GATAD2B</i> (p.His216Metfs*24) was detected and Sanger validated. Targeted Sanger sequencing of parental samples showed that it is de novo.</p><p><strong>Conclusion: </strong>We describe the first patient with GAND from Southeast Asia with Korean-Chinese parentage. The identification of a pathogenic variant in <i>GATAD2B</i> clarifies her diagnosis and adds to the genotypic and phenotypic spectrum of this disorder. This report illustrates the use of genetic testing to obtain a definite diagnosis.</p>","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":" ","pages":"1-5"},"PeriodicalIF":0.9,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12074647/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144081425","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}