The Utility of Whole Exome Sequencing in Fetuses With Isolated Increased Nuchal Translucency [0.03%]
全外显子组测序在孤立性增厚颈项透明层胎儿中的应用价值分析
Hui Wang,Caiqun Luo,Qian Geng et al.
Hui Wang et al.
Background: To evaluate the utility of prenatal whole exome sequencing (WES) in cases of isolated increased nuchal translucency (NT). Methods: ...
Novel Compound Heterozygous Variants in the TCTN2 Gene Causing Meckel-Gruber Syndrome 8 in a Non-Consanguineous Chinese Family [0.03%]
非近亲婚配的中国Meckel-Gruber综合征8型家系TCTN2基因新的复合杂合突变鉴定
Qi Yang,Wei He,Qiang Zhang et al.
Qi Yang et al.
Introduction: Meckel-Gruber syndrome (MKS, OMIM 24,900), also known as Meckel syndrome, is a rare and severe autosomal recessive disorder. The syndrome is typically characterized by a triad of occipital encephalocele, bil...
A Hereditary Pulmonary Alveolar Proteinosis Caused by a Novel Hemizygous Variation of the CSF2RA Gene Case Report and Literature Review [0.03%]
CSF2RA基因新型杂合变异所致遗传性肺泡蛋白沉积症1例及相关文献复习
Qiang Chen,Sufen Zhang,Xiaomin Zhu et al.
Qiang Chen et al.
Background: Hereditary pulmonary alveolar proteinosis (PAP) is a rare interstitial lung disease caused by variations in genes such as CSF2RA and CSF2RB, which disrupt granulocyte-macrophage colony-stimulating factor signa...
Historical Control Analysis Demonstrates Greater Long-Term Reduction in Plasma Globotriaosylceramide (Gb3) by Venglustat Compared With Placebo or Agalsidase Beta in Male Patients With Classic Fabry Disease [0.03%]
历史对照分析显示，与法布雷经典型男性患者的安慰剂或阿加利沙酶贝塔的治疗相比，维englustat更能长期降低血浆三己糖ceramide(Gb3)
Dominique P Germain,Pronabesh DasMahapatra,Shiguang Liu et al.
Dominique P Germain et al.
Purpose: To evaluate the disease biomarker response of venglustat in patients with Fabry disease (FD), utilizing data from a single-arm phase 2 study of venglustat and a placebo-controlled phase 3 study of agalsidase beta...
KCNH2-L693P Causes Long QT Syndrome Type 2 Through hERG Channel Dysfunction: Functional Validation of a Variant of Uncertain Significance [0.03%]
KCNH2-L693P通过hERG通道功能异常引起LQT2：对意义未明变异的功能验证
Xi-Fan Zheng,Qiu Chen,Xiang-Ting Lu et al.
Xi-Fan Zheng et al.
Background: Congenital long QT syndrome (LQTS) is an inherited arrhythmia characterized by QT prolongation and increased risk of ventricular arrhythmias. Type 2 LQTS (LQT2) results from mutations in the KCNH2 gene encodin...
Living With Hypochondroplasia: A Qualitative Exploration of Children's and Caregivers' Experiences, Challenges, and Unmet Needs [0.03%]
小儿和照料者患多发性软骨发育不全的经历、挑战及未满足需求的定性探索
Elisabeth M Oehrlein,Reni Pekala,Stacie Cavallaro et al.
Elisabeth M Oehrlein et al.
Background: Hypochondroplasia (HCH) is a rare genetic skeletal dysplasia characterized by short stature, disproportionate limbs, and complications such as learning differences. Currently, no treatments are approved to add...
Molecular Analysis of the HGD Gene in 9 Families With Alkaptonuric Ochronosis in Iran and Identification of Two Novel Variants [0.03%]
伊朗9个家族中HGD基因的分子分析及2种新变异的鉴定
Ahad Azami,Mohammad Jahanpanah,Yousef Imani Marani et al.
Ahad Azami et al.
Objectives: Alkaptonuria (AKU) (MIM number 203500) or homogentisic acid oxidase deficiency is a metabolic autosomal recessive disorder caused by mutations in the homogentisate 1, 2-dioxygenase (HGD) (MIM number 607474) ge...
An Intronic Variant in CDKN1C Gene Causing IMAGe Syndrome in an Iranian Girl [0.03%]
伊朗一名女孩CDKN1C基因内含子变异导致的IMAGe综合征病例报告
Setila Dalili,Seyyedeh Azade Hoseini Nouri,Ameneh Sharifi et al.
Setila Dalili et al.
Introduction: IMAGe syndrome, a rare disorder caused by maternally inherited CDKN1C pathogenic variants, is characterized by intrauterine growth retardation (IUGR), metaphyseal dysplasia, adrenal hypoplasia congenita, and...
Exome Sequencing Identifies a Novel Splicing Variant in COL9A3 Resulting in Multiple Epiphyseal Dysplasia: A Case Report [0.03%]
外显子组测序鉴定出COL9A3的新剪接变异导致多发骨骺发育不良：病例报告
Bashayer Alnuaimi,Valancy Miranda,Anne Marie Sbrocchi et al.
Bashayer Alnuaimi et al.
Background: Multiple epiphyseal dysplasia (MED, OMIM #600969) is sometimes a mild skeletal dysplasia with diverse clinical findings, including early-onset osteoarthritis and short stature. Radiographic surveys can identif...
Mexican Patients With Suspected 22q11.2 Deletion Syndrome: Clinical Characterization and Molecular Findings by Fluorescence In Situ Hybridization and Multiplex Ligation-Dependent Probe Amplification [0.03%]
疑似22q11.2缺失综合征的墨西哥患者：荧光原位杂交和多重连接依赖性探针扩增法的临床特征及分子发现
Thania Alejandra Aguayo-Orozco,Horacio Rivera,Luis E Figuera et al.
Thania Alejandra Aguayo-Orozco et al.
Background: The 22q11.2 deletion syndrome (22q11.2DS) is mostly caused by deletions of 3 and 1.5 Mb, referred to as typical deletions, although atypical deletions have also been reported. The commonest features are congen...