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4 articles related to "Compound Heterozygote Mutation"

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Articles

Case Report

Published on 10 Mar 2022

Case Report: A Novel Compound Heterozygote Mutation of the SCNN1B Gene Identified in a Chinese Familial Pseudohypoaldosteronism Disease Type I With Persistent Hyperkalemia

in Genetics of Common and Rare Diseases

Zongzhi Liu
Xiaojiao Wang
Zilong Zhang
Zixin Yang
Junyun Wang
Yajuan Wang

Frontiers in Pediatrics

doi 10.3389/fped.2022.831284

3,105 views
3 citations

Case Report

Published on 14 Mar 2025

Case Report: Diagnosis of Gaucher disease in a toddler with acute respiratory failure

in Genetics of Common and Rare Diseases

Sarah Householder
Ruchit Nagar
Nisarg Shah
Jodi Forward
Sean Bickerton
Pramod Mistry
E. Vincent S. Faustino

Frontiers in Pediatrics

doi 10.3389/fped.2025.1476541

2,233 views

Case Report

Published on 13 Jan 2021

Case Report: Pediatric Recurrent Acute Liver Failure Caused by Neuroblastoma Amplified Sequence (NBAS) Gene Mutations

in Pediatric Gastroenterology, Hepatology and Nutrition

Bingxin Jiang
Fangfei Xiao
Xiaolu Li
Yongmei Xiao
Yizhong Wang
Ting Zhang

Frontiers in Pediatrics

doi 10.3389/fped.2020.607005

6,799 views
13 citations

Case Report

Published on 04 Mar 2020

Neurologic Manifestations as Initial Clinical Presentation of Familial Hemophagocytic Lymphohistiocytosis Type2 Due to PRF1 Mutation in Chinese Pediatric Patients

in Genetics of Common and Rare Diseases

Wei-xing Feng
Xin-ying Yang
Jiu-wei Li
Shuai Gong
Yun Wu
Wei-hua Zhang
Tong-li Han
Xiu-wei Zhuo
Chang-hong Ding
Fang Fang

Frontiers in Genetics

doi 10.3389/fgene.2020.00126

6,780 views
20 citations