Duchenne Muscular Dystrophy and Early Onset Hypertrophic Cardiomyopathy associated with Mutations in Dystrophin and Hypertrophic Cardiomyopathy-Associated Genes [0.03%]
与DMD基因和肥厚型心肌病相关基因突变有关的杜氏肌肉萎缩症及早发性肥厚型心肌病
Liam Aspit,Noga Arwas,Hanna Krymko et al.
Liam Aspit et al.
Duchenne muscular dystrophy (DMD) is a progressive muscular damage disorder caused by mutations in dystrophin gene. Cardiomyopathy may first be evident after 10 years of age and increases in incidence with age. We present a boy diagnosed at...
A Further Case of Larsen's Syndrome: Clinical and Genotypic Challenges in Diagnosis [0.03%]
Larsen综合征的另一例：诊断中的临床和基因型挑战
Veronica Arora,Swasti Pal,Samarth Kulshreshtha et al.
Veronica Arora et al.
Larsen's syndrome is characterized by dislocation of multiple large joints, digital anomalies, craniofacial dysmorphism, and short stature. In this paper, we describe a case of a 5-month-old boy with a triad of cardinal features in associat...
Mosaic Trisomy 16 Associated with Left Lung Agenesis, Abnormal Left Arm, and Right Pulmonary Artery Stenosis: Expanding the Phenotype and Review of the Literature [0.03%]
与左肺发育不全、异常左上肢和右肺动脉狭窄相关的镶嵌型16体三体型：扩大表型并文献复习
Hoang H Nguyen,Krishna Kishore Umapathi,John W Bokowski et al.
Hoang H Nguyen et al.
Trisomy 16 is the most common autosomal trisomy found in spontaneous abortions with mosaic versions seen in survivors. However, surviving children have multiple congenital defects and are at risk of growth and developmental delay. We report...
Kohei Murakami,Shingo Kikugawa,Shoji Seki et al.
Kohei Murakami et al.
Congenital scoliosis (CS) is a lateral curvature of the spine characterized by the presence of vertebral anomalies. Pathogenic genetic variants in the TBX6 gene are one of the causes of CS. However, since many clinically diagnosed cases of ...
A Case Report: Two Young Children with Long QT Syndrome Type-2 Diagnosed by Presymptomatic Genetic Testing [0.03%]
一例先证者基因检测诊断长QT综合征2型家系报告
Yuki Matsushita,Hazumu Nagata,Masanobu Ogawa et al.
Yuki Matsushita et al.
Long QT syndromes (LQTSs) can lead to sudden cardiac death, yet these syndromes are often asymptomatic and clinically undetected, despite the prolongation of the QT interval. Currently, when a disease-causing variant is identified in an ind...
Daniel S Udrea,Merrick Lopez,Michael Avesar et al.
Daniel S Udrea et al.
The novel coronavirus (severe acute respiratory syndrome coronavirus-2) has led to a global pandemic. In the adult population, coronavirus disease 2019 (COVID-19) has been found to cause multiorgan system damage with predicted long-term seq...
Massively Parallel Sequencing of 43 Arrhythmia Genes in a Selected SUDI Cohort from Cape Town [0.03%]
选自开普敦的一组猝死尸体病例的43个心律失常基因的大规模平行序列分析
Laura Jane Heathfield,Hugh Watkins,Lorna Jean Martin et al.
Laura Jane Heathfield et al.
Sudden unexpected death in infants (SUDI) is a devastating event, and unfortunately occurs frequently in developing countries. The emerging molecular autopsy has added value to post-mortem investigations, where genetic variants were able to...
Erratum: Erratum: Multiple Hereditary Exostoses: Report of an EXT2 Gene Mutation in a Colombian Family [0.03%]
文章致读者：EXT2基因突变导致多发性软骨外生样病变家系及其表型分析的更正
Jhon Camacho-Cruz,Luz Dary Gutierrez,Cladelis Rubio et al.
Jhon Camacho-Cruz et al.
[This corrects the article DOI: 10.1055/s-0038-1636998.]. Thieme. All rights reserved.
Published Erratum
Journal of pediatric genetics. 2018 Sep;7(3):e1. DOI:10.1055/s-0042-1757504 2018
CYP2D6 rs35742686 and rs3892097 Gene Polymorphisms and Childhood Acute Lymphoblastic Leukemia: Relation to Disease Susceptibility in Kashmiri Children [0.03%]
CYP2D6基因多态性与儿童急性淋巴细胞白血病易感性的关系——卡什米尔地区儿童相关研究
Nidha Sadiq Shapoo,Akbar Masood,Javid R Bhat et al.
Nidha Sadiq Shapoo et al.
CYP2D6 is one of the most widely investigated CYPs in relation to gene polymorphism. This study analyzed the relationship between CYP2D6 rs35742686 and rs3892097 single-nucleotide polymorphisms (SNPs) and potential risk factors in the devel...
Novel Causative RET Mutation in a Japanese Family with Hirschsprung's Disease: Case Report and Factors Impacting Disease Severity [0.03%]
日本一家系导致先天性巨结肠病的新RET致病突变：病例报告及影响疾病严重程度的因素分析
Tsukasa Higuchi,Kazuki Yoshizawa,Tomoko Hatata et al.
Tsukasa Higuchi et al.
RET gene variances confer susceptibility to Hirschsprung's disease (HSCR) with pathogenetic mutations being identified in half of familial cases. This investigation of familial HSCR was aimed to clarify the relationship between genetic muta...