Array of Testing Characterizes Prenatal Diagnosis of Mosaic Tetrasomy 9p24q22.3 Associated With an Unusually Mild Phenotype and Favourable Outcome [0.03%]
产前诊断出与表型较轻和预后良好的九号染色体臂重复嵌合体的检测案例报告
Crystle Lee,Ellen Casey,David J Amor
Crystle Lee
Background: Tetrasomy 9p is a rare chromosomal disorder with distinct clinical features, but wide phenotypic variability. Historically, tetrasomy 9p has been detected by conventional cytogenetic analysis, but newer techno...
A Case Report and Literature Review on Osteo-Oto-Hepato-Enteric Syndrome in Premature Infants Caused by UNC45A Deficiency [0.03%]
UNC45A缺陷所致早产儿骨-耳-肝-肠综合征病例报告及文献复习
Zhengda Sun,Qijun Song,Ziyue Zhang et al.
Zhengda Sun et al.
Objective: To report the clinical manifestations, treatment, and genetic diagnosis of a patient with osteo-oto-hepato-enteric (O2HE) syndrome. Case presen...
New Pathogenic Variant in the GLI3 Gene in the First Colombian Patient Associated With Pallister-Hall Syndrome: A Clinical Report [0.03%]
哥伦比亚第一个与Pallister-Hall综合征相关的GLI3基因新致病突变的临床报道
Sebastián Bonilla-Navarrete,Luis Eduardo Prieto,Laura Valentina Carvajal et al.
Sebastián Bonilla-Navarrete et al.
Background: Pallister-Hall syndrome (PHS) is an extremely rare genetic disorder. It presents as a polymalformative syndrome affecting craniofacial structures, the central nervous system, limbs, various internal organs, an...
A Novel Missense Variant of the ABCD1 Gene in X-Linked Adrenoleukodystrophy in Chinese Family [0.03%]
中国人X连锁肾上腺脑白质营养不良ABCD1基因新的错义突变
Hongxia Fu,Lu Han,Xianhong Liu et al.
Hongxia Fu et al.
Background: We identified a novel ABCD1 variant (c.773T>G, p.Leu258Arg, NM_000033.4) in a Chinese pedigree affected by X-linked adrenoleukodystrophy (X-ALD). This missense variant in exon 1 is predicted to be pathogenic a...
Association Between KLF1, BCL11A and HBS1L-MYB Polymorphisms and Phenotypes With β-Thalassemia Patients in Hainan [0.03%]
海南β-地中海贫血患者KLF1，BCL11A和HBS1L-MYB多态性的相关性研究
Junjie Hu,Huaye Chen,Wei Gong et al.
Junjie Hu et al.
Background: The factors influencing the phenotypic heterogeneity of patients with β-thalassemia have been receiving much attention in the field of hematology research. Activating the sustained expression of fetal hemoglo...
Correction to "Phenotypic and Genetic Characteristics of 24 Cases of Early Infantile Epileptic Encephalopathy in East China, Including a Rare Case of Biallelic UGDH Mutations" [0.03%]
对“中国东部24例早期婴儿癫痫性脑病的临床及基因特征分析包括双等位UGDH突变罕见病例报道”的勘误
Published Erratum
Molecular genetics & genomic medicine. 2025 Sep;13(9):e70145. DOI:10.1002/mgg3.70145 2025
Genetic Analysis of Familial Developmental Dysplasia of the Hip Associated With a Heterozygous Variant in the COMP Gene: A Case Report [0.03%]
家族性先天性髋关节发育不良与COMP基因杂合变异的遗传分析：1例报告
Yan Miao,Jiashan Li,Siying Liang et al.
Yan Miao et al.
Background: Developmental dysplasia of the hip (DDH) is a prevalent congenital musculoskeletal disorder characterized by structural abnormalities of the hip joint. While its etiology involves genetic and environmental fac...
geneEX: An Integrated Phenotype-Driven Algorithm for Rapid Identification of Causative Variants in Monogenic Disorders [0.03%]
基因EX：一种整合表型的算法，用于单基因疾病致病变异的快速识别
Junyu Zhang,Dongyun Liu,Mei Chen et al.
Junyu Zhang et al.
Background: In the diagnostic process of monogenic genetic disorders, identifying pathogenic variants is a crucial step. Thanks to the widespread adoption of Next-Generation Sequencing (NGS) technology, diagnostic efficie...
Frequency and Spectrum of Actionable Secondary Findings in the Maltese Population [0.03%]
马耳他人口中可操作的二级发现的发生率和谱型
Laura Grech,Celine Ann Grech,Jasmine Spiteri et al.
Laura Grech et al.
Background: The identification of actionable secondary findings (SFs) through clinical exome sequencing has become increasingly relevant with the integration of genomics into routine healthcare. The frequency and spectrum...
A Novel TP63 Missense Mutation in the Sumoylation Motif Causes Isolated Split-Hand/Foot Malformation 4: A Pedigree Report and Literature Review [0.03%]
TP63蛋白酶体化修饰位点的新错义突变导致孤立型分裂手/足畸形4型：一例家系及文献复习
Wei Yang,Jian Zhou,Nuo Si et al.
Wei Yang et al.
Background: Heterozygous TP63 mutations cause a spectrum of disorders including split-hand/foot malformation 4 (SHFM4) and ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome 3 (EEC3). While some SHFM4 mutations c...