Molecular Syndromology最新文献_第10页

Triple-A Syndrome in Morocco: Founder Effect, Age Estimation of the AAAS c.1331+1G>A Variant, and Implications for Genetic Diagnosis 摩洛哥aaa综合征:创始人效应、年龄估计AAASc.1331+1G>A Variant, and Implications for Genetic Diagnosis

4区医学

Molecular Syndromology Pub Date : 2023-09-29 DOI: 10.1159/000533894

Karam Yahya Belmokhtar, Imane Cherkaoui, Saida Lhousni, Mounia Elidrissi Errahhali, Manal Elidrissi Errahhali, Majida Charif, Redouane Boulouiz, Meryem Ouarzane, Aziza Elouali, Ayad Ghanam, Abdeladim Babakhouya, Maria Rkain, Noufissa Benajiba, Mohammed Bellaoui

{"title":"Triple-A Syndrome in Morocco: Founder Effect, Age Estimation of the AAAS c.1331+1G&gt;A Variant, and Implications for Genetic Diagnosis","authors":"Karam Yahya Belmokhtar, Imane Cherkaoui, Saida Lhousni, Mounia Elidrissi Errahhali, Manal Elidrissi Errahhali, Majida Charif, Redouane Boulouiz, Meryem Ouarzane, Aziza Elouali, Ayad Ghanam, Abdeladim Babakhouya, Maria Rkain, Noufissa Benajiba, Mohammed Bellaoui","doi":"10.1159/000533894","DOIUrl":"https://doi.org/10.1159/000533894","url":null,"abstract":"Introduction: Triple-A syndrome (Triple-A) is an autosomal recessive disorder characterized by alacrimia, achalasia, and adrenal insufficiency. Several variants on the AAAS gene have been described, and some variants are clustered in particular geographical areas, such as the c.1331+1G&gt;A variant which is very frequent in North Africa. Here, we describe the genetic features of Triple-A in a series of unrelated families from Morocco. Methods: Screening for the AAAS c.1331+1G&gt;A variant was performed by direct sequencing or by PCR-RFLP. Haplotype analysis using Single Tandem Repeat (STR) markers flanking AAAS gene was performed in order to evaluate the founder effect and estimate the age of the c.1331+1G&gt;A variant. Results: Seven unrelated families with ten individuals clinically diagnosed with Triple-A were evaluated for sequence variations in the AAAS gene. The median age at diagnosis was 3 years, with a range between 2 and 11 years. Molecular analysis revealed that all patients were homozygous for the c.1331+1G&gt;A variant. This variant was not found in 200 healthy controls, indicating that carriers are very rare in the general Moroccan population. Subsequently, STR marker analysis revealed a founder effect and that the most recent common ancestor of Triple-A patients in Morocco would have lived 125 years ago. Conclusion: This is the largest series of Triple-A in Morocco. The same AAAS c.1331+1G&gt;A variant was found in all patients, suggesting a founder effect in Morocco which was subsequently confirmed by microsatellite marker analysis. Therefore, this variant should be systematically investigated to diagnose Triple-A in Morocco.","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":"6 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135296406","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Expanding the Phenotypic and Genotypic Spectrum of Weaver Syndrome: A Missense Variant of the EZH2 Gene 扩展韦弗综合征的表型和基因型谱:EZH2基因

4区医学

Molecular Syndromology Pub Date : 2023-09-28 DOI: 10.1159/000533733

Yasemin Kendir-Demirkol, Burcu Yeter, Laura A. Jenny

引用次数: 0

Prenatal Diagnosis of a de novo 2q14.3-q22.1 Deletion with Complex Chromosomal Rearrangement 新生儿2q14.3-q22.1缺失伴复杂染色体重排的产前诊断

4区医学

Molecular Syndromology Pub Date : 2023-09-18 DOI: 10.1159/000531769

Yong Wu, Chuanning Liao, Yamei Xie, Lingxi Wang

{"title":"Prenatal Diagnosis of a de novo 2q14.3-q22.1 Deletion with Complex Chromosomal Rearrangement","authors":"Yong Wu, Chuanning Liao, Yamei Xie, Lingxi Wang","doi":"10.1159/000531769","DOIUrl":"https://doi.org/10.1159/000531769","url":null,"abstract":"Introduction: Chromosomal aberrations due to complex chromosomal rearrangements (CCRs) can cause abnormal phenotypes if accompanied by microdeletions or microduplications near the breakpoint, or gene breaks. Case Presentation: We report a prenatal diagnostic case of 2q14.3-q22.1 deletion with ultrasound suggestive of absent nasal bone accompanied by CCRs involving 6 chromosomes. Cytogenetic analysis revealed a karyotype of 46,XY,der(1)t(1;2)(p13.3;p11.2),der(2)t(1;2)inv(2)(q12q14.2)del(2)(q14.3q22.1),t(12;16)(q21.2;q12.1),t(13;21)(q32;q22.1). Chromosomal microarray analysis identified a 14.90 Mb deletion on 2q14.3q22.1. The copy number variant was de novo, as determined by karyotype analysis of the parents’ peripheral blood G-banding. Conclusion: The region contains haploinsufficient genes that can cause different phenotypes, mainly associated with neurodevelopmental and autism spectrum disorders. However, the genotype-phenotype correlation is limited in prenatal evaluation. Therefore, the combined use of multiple diagnostic techniques has an important role in the assessment of CCRs and genetic counseling.","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":"31 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135255991","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Analysis of Dopamine Receptor D2 Gene Polymorphism and Correlation with Dyslipidemia in the Chinese Population 中国人群多巴胺受体D2基因多态性及其与血脂异常的相关性分析

4区医学

Molecular Syndromology Pub Date : 2023-09-13 DOI: 10.1159/000533637

Haibo Tan, Zhixue Wang, Jiaxuan Zhang, Maohua Huang, Jide Chen, Fengqi Li, Liangjun Tang

{"title":"Analysis of Dopamine Receptor D2 Gene Polymorphism and Correlation with Dyslipidemia in the Chinese Population","authors":"Haibo Tan, Zhixue Wang, Jiaxuan Zhang, Maohua Huang, Jide Chen, Fengqi Li, Liangjun Tang","doi":"10.1159/000533637","DOIUrl":"https://doi.org/10.1159/000533637","url":null,"abstract":"Objective: The study aimed to explore the genotype and allele distributions of dopamine D2-like receptor (DRD2) gene -141C and C957T polymorphisms in the Chinese Han population with dyslipidemia, as well as their association with serum lipid levels. Methods: One hundred fifty patients with dyslipidemia and 150 healthy people were recruited as the case and the control groups, respectively. Serum total cholesterol (TC), triglyceride (TG), high-density lipoprotein cholesterol (HDL-C), and low-density lipoprotein cholesterol levels were detected. The target sequence of DRD2 polymorphisms was amplified by polymerase chain reaction and genotyped via Sanger sequencing. Results: In DRD2 gene C957T (rs6277), three genotypes of CC, CT, and TT were detected with the frequencies of 92.67%, 6.67%, 0.67% in dyslipidemia cases, and 83.33%, 14.67%, 2.00% in the controls, respectively. The CT genotype and T allele frequencies were significantly low in the case group relative to the control group. After adjusting to other clinical indicators, the CT genotype of C957T polymorphism (hazard ratio = 0.401, 95% confidence interval = 0.181–0.890, p &lt; 0.05) was still related to a significantly reduced risk of dyslipidemia. The C957T CT genotype carriers had the lowest values of serum TC, TG, LDL, and the highest values of serum HDL-C. Conclusion: DRD2 gene C957T polymorphism was an independent influencing factor associated with the susceptibility to dyslipidemia, and the CT genotype was associated with decreased odds of susceptibility to dyslipidemia.","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":"54 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135787225","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Novel Insights from Clinical Practice: Xia-Gibbs Syndrome with Pes Cavus, Conjunctival Melanosis, and Eye Asymmetry due to a de novo AHDC1 Gene Variant – A Case Report and a Brief Review of the Literature 来自临床实践的新见解:由全新的AHDC1基因变异引起的夏-吉布斯综合征伴足弓足、结膜黑变和眼睛不对称- 1例报告和文献综述

4区医学

Molecular Syndromology Pub Date : 2023-09-08 DOI: 10.1159/000530410

Margherita Baga, Ivan Ivanovski, Gianluca Contrò, Stefano Giuseppe Caraffi, Carlotta Spagnoli, Carlo Alberto Cesaroni, Alberto Neri, Francesca Peluso, Marzia Pollazzon, Livia Garavelli, Carlo Fusco

{"title":"Novel Insights from Clinical Practice: Xia-Gibbs Syndrome with Pes Cavus, Conjunctival Melanosis, and Eye Asymmetry due to a de novo AHDC1 Gene Variant – A Case Report and a Brief Review of the Literature","authors":"Margherita Baga, Ivan Ivanovski, Gianluca Contrò, Stefano Giuseppe Caraffi, Carlotta Spagnoli, Carlo Alberto Cesaroni, Alberto Neri, Francesca Peluso, Marzia Pollazzon, Livia Garavelli, Carlo Fusco","doi":"10.1159/000530410","DOIUrl":"https://doi.org/10.1159/000530410","url":null,"abstract":"Introduction: Xia-Gibbs syndrome (OMIM 615829) is a rare developmental disorder, caused by heterozygous de novo variants in the AHDC1 gene. Hallmark features include global developmental delay, facial dysmorphisms, and behavioral problems. To date, more than 250 individuals have been diagnosed worldwide. Case Report: We report a 13-year-old female who, in association with typical features of Xia-Gibbs syndrome, presented with macrocrania, pes cavus, and conjunctival melanosis. Whole-exome sequencing identified a de novo frameshift variant, which had not been reported in the literature before. Conclusion: We summarized the main clinical and phenotypic features of patients described in the literature, and in addition, we discuss another feature found in our patient and observed in other cases described, eye asymmetry, which has never been highlighted, and suggest that it could be part of the typical clinical presentation of this condition.","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":"39 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136299697","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Co-Occurrence of Myotonic Dystrophy Type 1 and Limb-Girdle Muscular Dystrophy Type 2B: A Case Report 1型强直性肌营养不良与2B型肢带性肌营养不良共发1例

4区医学

Molecular Syndromology Pub Date : 2023-08-22 DOI: 10.1159/000533219

Lucas Augusto Hauschild, Taciana Seixas Maia da Silva, Pablo Brea Winckler, Laércio Moreira Cardoso-Júnior, Jonas Alex Morales Saute, Karina Carvalho Donis

{"title":"Co-Occurrence of Myotonic Dystrophy Type 1 and Limb-Girdle Muscular Dystrophy Type 2B: A Case Report","authors":"Lucas Augusto Hauschild, Taciana Seixas Maia da Silva, Pablo Brea Winckler, Laércio Moreira Cardoso-Júnior, Jonas Alex Morales Saute, Karina Carvalho Donis","doi":"10.1159/000533219","DOIUrl":"https://doi.org/10.1159/000533219","url":null,"abstract":"Introduction: Myotonic dystrophy type 1 (DM1) is an autosomal dominant neuromuscular disease whose pattern of weakness is predominantly distal. Limb-girdle muscular dystrophy type 2B/R2-dysferlin-related (LGMD2B/R2) is another neuromuscular disease, which presents an autosomal recessive inheritance and is marked by proximal muscle weakness. Even if uncommon, comorbid inherited pathologies must be considered in cases of atypical presentations, especially in those with family history of consanguinity. Case Presentation: Herein, we report the unique case of a patient diagnosed with both DM1 and LGMD2B/R2: a 38-year-old woman in follow-up of DM1 in a neuromuscular disease service presenting prominent proximal weakness. The patient’s parents were consanguineous, and creatine kinase levels were elevated. A multi-gene panel test was performed and revealed the diagnosis of LGMD2B/R2. Conclusion: Genetic diseases with atypical presentations should raise the possibility of a second disorder, prompting an appropriate investigation. Overlooking a second diagnosis can implicate in not offering adequate genetic counseling, support, or specific treatment.","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":"64 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135717926","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A Family with EEC Syndrome in the Son and ADULT Syndrome in His Father Caused by the c.797G>A (p.Arg266Gln) Pathogenic Variant in the TP63 Gene 由TP63 / p.Arg266Gln致病变异引起的儿子EEC综合征和父亲成人综合征家族基因

4区医学

Molecular Syndromology Pub Date : 2023-08-18 DOI: 10.1159/000531934

Jorge Román Corona-Rivera, Izabel Maryalexandra Rios-Flores, Juan Carlos Zenteno, Christian Peña-Padilla, Katia Castillo-Reyes, Lucina Bobadilla-Morales, Alfredo Corona-Rivera, Elizabeth Acosta-Fernández, Alejandro Bruckman-Jiménez

{"title":"A Family with EEC Syndrome in the Son and ADULT Syndrome in His Father Caused by the c.797G&gt;A (p.Arg266Gln) Pathogenic Variant in the TP63 Gene","authors":"Jorge Román Corona-Rivera, Izabel Maryalexandra Rios-Flores, Juan Carlos Zenteno, Christian Peña-Padilla, Katia Castillo-Reyes, Lucina Bobadilla-Morales, Alfredo Corona-Rivera, Elizabeth Acosta-Fernández, Alejandro Bruckman-Jiménez","doi":"10.1159/000531934","DOIUrl":"https://doi.org/10.1159/000531934","url":null,"abstract":"Introduction: To our knowledge, there are few examples of intrafamilial variability involving two different TP63-linked morphopathies within a same family. Here, we describe a Mexican family in which the son had ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3), and his father acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome, both heterozygous for the p.Arg266Gln pathogenic variant in TP63. Additionally, we reviewed the clinical information reported for this TP63 genotype. Case Presentation: The son of this family presented ectodermal defects (thin and sparse hair, mild nail dysplasia), tetramelic ectrodactyly, syndactyly, and nasolacrimal duct obstruction (NLDO), indicative of an EEC3 diagnosis. His father, however, exhibited severe NLDO, facial freckling, dental abnormalities, mild nail dysplasia, and a history of micturition problems, compatible with ADULT syndrome. Both were heterozygous for the NM_003722.5(TP63):c.797G&gt;A (p.Arg266Gln) pathogenic variant in TP63. Discussion: This report expands the spectrum of intrafamilial variability confirming that this can include the expression of distinct types of TP63-related disorders among different members of the same family, whose implications should be also considered in genetic counseling. From our review, we observed that p.Arg266Gln variant seems to correlate particularly with the presence of NLDO, sparse hair/eyebrows, ridged/dystrophic nails, anodontia/hypodontia, and micturition difficulties, as well as for a minor frequency of cleft lip/cleft palate.","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":"2 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136214851","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Laboratory and Genotype Relationship of Patients with SDHA-Related Mitochondrial Disease sdha相关线粒体疾病患者的实验室和基因型关系

4区医学

Molecular Syndromology Pub Date : 2023-08-18 DOI: 10.1159/000531668

Burcu Civelek Ürey, Ahmet Cevdet Ceylan, Büşranur Cavdarlı, Ayşegül Neşe Çıtak Kurt, Oya Kıreker Köylü, Burak Yürek, Çiğdem Seher Kasapkara

引用次数: 0

Co-Occurrence of Pallister-Killian Syndrome and Burkitt Lymphoma in a Patient with Near-Normal Neurocognitive Development. 一名神经认知发育接近正常的患者同时患有帕利斯特-基里安综合征和伯基特淋巴瘤

IF 1.1 4区医学

Molecular Syndromology Pub Date : 2023-08-01 Epub Date: 2023-05-05 DOI: 10.1159/000530197

Kosuke Izumi, Rebecca D Ganetzky, Gerald B W Wertheim, Cara M Skraban, Emma C Bedoukian, Alisha Wilkens, Christopher Fincher, Nina H Thomas, Jill P Ginsberg, Susan R Rheingold, Laura K Conlin, Matthew A Deardorff

{"title":"Co-Occurrence of Pallister-Killian Syndrome and Burkitt Lymphoma in a Patient with Near-Normal Neurocognitive Development.","authors":"Kosuke Izumi, Rebecca D Ganetzky, Gerald B W Wertheim, Cara M Skraban, Emma C Bedoukian, Alisha Wilkens, Christopher Fincher, Nina H Thomas, Jill P Ginsberg, Susan R Rheingold, Laura K Conlin, Matthew A Deardorff","doi":"10.1159/000530197","DOIUrl":"10.1159/000530197","url":null,"abstract":"Background: Pallister-Killian syndrome (PKS) is typically recognized by its features that include developmental delay, seizures, sparse temporal hair, and facial dysmorphisms. PKS is most frequently caused by mosaic supernumerary isochromosome 12p.Case presentation: Here, we report a patient with PKS who was subsequently diagnosed with Burkitt lymphoma. Following the successful treatment of lymphoma, this patient demonstrated very mild intellectual disability despite the diagnosis of PKS, which is usually associated with severe developmental delay.Discussion: This is the first reported patient with PKS and a hematologic malignancy. Although there is no significant reported association of tetrasomy 12p with cancer, the co-occurrence of two rare findings in this patient suggests a potential relationship. The localization of AICDA, a gene for which overexpression has been implicated in promoting t(8;14) noted in our patient's lymphoma, raises a potential mechanism of pathogenesis. In addition, this case indicates that children with PKS can demonstrate near-normal cognitive development.","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":"14 4","pages":"303-309"},"PeriodicalIF":1.1,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10425716/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10020170","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}

引用次数: 0

A Missense Pathogenic Variant in a Conserved Region of CNTNAP2 Is Associated with Obesity, Seizures, and Language Impairment in a Pakistani Family. CNTNAP2保守区的一种错义致病性变体与巴基斯坦家庭中的肥胖、癫痫发作和语言障碍有关。

IF 1.1 4区医学

Molecular Syndromology Pub Date : 2023-08-01 Epub Date: 2023-03-30 DOI: 10.1159/000529427

Sara Naudhani, Adeel Ahmad, Fariya Khan Bazai, Muhammad Tariq Pervez, Azqa Zafar, Sajjad Ali Shah, Nafeesa Raheem, Abdul Hameed Baloch, Muhammad Mushtaq, Shakeela Daud

{"title":"A Missense Pathogenic Variant in a Conserved Region of CNTNAP2 Is Associated with Obesity, Seizures, and Language Impairment in a Pakistani Family.","authors":"Sara Naudhani, Adeel Ahmad, Fariya Khan Bazai, Muhammad Tariq Pervez, Azqa Zafar, Sajjad Ali Shah, Nafeesa Raheem, Abdul Hameed Baloch, Muhammad Mushtaq, Shakeela Daud","doi":"10.1159/000529427","DOIUrl":"10.1159/000529427","url":null,"abstract":"Introduction: In a consanguineous family, seven siblings born in three sibships showed a syndromic disorder characterized by obesity, seizures, and language impairment phenotypes, which appeared at early age or developed during early childhood.Methods: By whole-exome sequencing and subsequent Sanger sequencing, a novel homozygous missense variant (c.3371 T>A [p.Ile1124Asn]) in exon 20 of the CNTNAP2 gene was identified.Results: The pathogenic variant in this family is located within one of the laminin G-like 4 domains of CASPR2 and may cause loss of hydrophobic interactions of CASPR2 with its partner proteins. Single nucleotide and copy number variants in this gene have previously been related to Gilles de la Tourette syndrome, cortical dysplasia-focal epilepsy syndrome, schizophrenia, Pitt-Hopkins syndrome, and autism spectrum, attention deficit hyperactivity, and obsessive compulsive disorders. Yet, few studies described patients with CNTNAP2 variants showing diet-induced obesity.Conclusion: This report expands the phenotypic spectrum of this rare syndrome and provides deeper insights by documenting the clinical features and genetic findings of the patients.","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":"14 4","pages":"293-302"},"PeriodicalIF":1.1,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10521233/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41155239","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}

引用次数: 0