Gene Variants in NKX2-1 Do Not Represent a Major Etiological Factor of Primary Congenital Hypothyroidism in Mexican Population [0.03%]
NKX2-1基因变异不是墨西哥人口原发性先天性甲状腺功能减退症的主要致病因素
Ariadna González-Del Angel,Liliana Fernández-Hernández,Iraís Sánchez-Verdiguel et al.
Ariadna González-Del Angel et al.
Congenital hypothyroidism (CH), attributable to thyroid dysgenesis (TD), has an unusually high prevalence in Mexican population but the causes are unknown. NKX2-1 , as a candidate gene, was subjected to automated Sanger sequencing in 122 un...
Erratum: Attitude toward Prenatal Testing and Termination of Pregnancy among Health Professionals and Medical Students in Saudi Arabia [0.03%]
关于沙特阿拉伯卫生专业人员和医学生进行产前检查和终止妊娠态度的勘误答复文章
Nagwa E A Gaboon,Khadijah H Bakur,Alaa Y Edrees et al.
Nagwa E A Gaboon et al.
[This corrects the article DOI: 10.1055/s-0037-1600131.].
Published Erratum
Journal of pediatric genetics. 2017 Sep;6(3):e1. DOI:10.1055/s-0037-1603198 2017
IL18 Gene Polymorphism Influences Age of Onset of DM1 in African Ancestry Brazilians [0.03%]
IL18基因多态性影响非洲血统巴西人DM1的发病年龄
Alejandro Boëchat-Fernandes,Rosângela Roginski Réa,Nicole Balster Romanzini et al.
Alejandro Boëchat-Fernandes et al.
The aim of this study was to investigate the relationship of two single nucleotide polymorphisms (SNPs) in the interleukin-18 ( IL18 ) gene (rs187238, g.-137G > C; rs1946518, g.-607C > A) and one SNP of the IL12B gene (rs3212227 g.*159A > C...
Description of an ELANE Mutation in a Girl with Severe Congenital Neutropenia: A Paradigm of Targeted Genetic Screening Based on Clinical Findings [0.03%]
基于临床特征的遗传靶向筛查在ELANE基因突变所致严重先天中性粒细胞减少症中的应用及意义
Maria Gogou,Labrini Damianidou,Theodotis Papageorgiou et al.
Maria Gogou et al.
We describe the case of a 5-year-old girl with severe congenital neutropenia presenting with recurrent skin and respiratory infections. Sequence analysis of ELANE and HAX1 genes identified a mutation in heterozygous state in exon 2 of the E...
Alexandra Lazzara,Carrie Daymont,Roger Ladda et al.
Alexandra Lazzara et al.
The patient is a term 6-month-old male, who presented with failure to thrive since birth. History was remarkable for suspected milk and soy protein allergy, gastroesophageal reflux, constipation, and abdominal distension that was present si...
Case Report on a Rare Disease in Lithuania: Congenital Chloride Diarrhea [0.03%]
立陶宛罕见病病例报告：先天性氯化物腹泻
Olga Liaugaudiene,Dalia Stoniene,Ruta Kucinskiene et al.
Olga Liaugaudiene et al.
Congenital chloride diarrhea (CCD) is a rare disease, manifesting with secretory diarrhea and life-threatening electrolyte imbalance during infancy. The early diagnosis of CCD is therefore necessary for the adequate treatment. The long-term...
A Two-Month-Old Child with Vascular Ectasia: A Case Report Diagnosed by Molecular Karyotyping [0.03%]
染色体微阵列检测发现血管ectasia的两个月婴儿一例
Ozlem Tolu Kendir,Hayri Levent Yilmaz,Sevcan Bozdogan et al.
Ozlem Tolu Kendir et al.
Gastrointestinal angiodysplasia can be encountered in cases with aortic stenosis, inflammatory gastrointestinal conditions, von Willebrand disease or vascular damage, and degenerative changes. Predisposing factors have been described in fou...
Mitochondrial Neurogastrointestinal Encephalomyopathy Disease in Three Siblings from Pakistan with a Novel Mutation [0.03%]
一例巴基斯坦罕见病家系临床分析及新突变报道
Sana Durrani,Bee Chin Chen,Yusnita Yakob et al.
Sana Durrani et al.
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare multisystem autosomal recessive disorder. The disease is clinically heterogeneous with gastrointestinal symptoms of intestinal dysmotility and cachexia as well as neuro...
A Novel De Novo Frameshift Mutation in KAT6A Identified by Whole Exome Sequencing [0.03%]
全外显子组测序鉴定的KAT6A基因从头移码突变导致的新临床亚型综合症
Asem Alkhateeb,Wafa Alazaizeh
Asem Alkhateeb
Intellectual disability is a common condition with multiple etiologies. The number of monogenic causes has increased steadily in recent years due to the implementation of next generation sequencing. Here, we describe a 2-year-old boy with g...
Chromosomal Microarray Analysis in Children with Unexplained Developmental Delay/Intellectual Disability [0.03%]
染色体微阵列分析在病因未明的儿童发育迟缓/智力低下中的应用
Pinar Arican,Nihal Olgac Dundar,Berk Ozyilmaz et al.
Pinar Arican et al.
Chromosomal microarray (CMA) analysis for discovery of copy number variants (CNVs) is now recommended as a first-line diagnostic tool in patients with unexplained developmental delay/intellectual disability (DD/ID) and autism spectrum disor...