Frontiers in Pediatrics | Genetics of Common and Rare Diseases

Case Report

Published on 04 Jul 2022

Case Report: Diagnosis of Mucopolysaccharidosis Type IVA With Compound Heterozygous Galactosamine-6 Sulfatase Variants and Biopsy of Replaced Femoral Heads

in Genetics of Common and Rare Diseases

Yiyang Ma
Hao Peng
Fuchou Hsiang
Haoyu Fang
Dajiang Du
Chenyi Jiang
Yehui Wang
Chun Chen
Changqing Zhang
Yun Gao

Frontiers in Pediatrics

doi 10.3389/fped.2022.914889

2,470 views

Correction

Published on 30 Jun 2022

Corrigendum: Pathogenicity and Long-Term Outcomes of Liddle Syndrome Caused by a Nonsense Mutation of SCNN1G in a Chinese Family

in Genetics of Common and Rare Diseases

Di Zhang
Yi Qu
Xue-Qi Dong
Yi-Ting Lu
Kun-Qi Yang
Xin-Chang Liu
Peng Fan
Yu-Xiao Hu
Chun-Xue Yang
Ling-Gen Gao

Frontiers in Pediatrics

doi 10.3389/fped.2022.961964

1,834 views
1 citation

Case Report

Published on 27 Jun 2022

Case Report: Aicardi-Goutières Syndrome Type 6 and Dyschromatosis Symmetrica Hereditaria With Congenital Heart Disease and Mitral Valve Calcification – Phenotypic Variants Caused by Adenosine Deaminase Acting on the RNA 1 Gene Homozygous Mutations

in Genetics of Common and Rare Diseases

Lingjuan Liu
Lu Zhang
Peng Huang
Jie Xiong
Yangyang Xiao
Cheng Wang
Dingan Mao
Liqun Liu

Frontiers in Pediatrics

doi 10.3389/fped.2022.852903

4,617 views
9 citations

Case Report

Published on 23 Jun 2022

ARID2, a Rare Cause of Coffin–Siris Syndrome: A Clinical Description of Two Cases

in Genetics of Common and Rare Diseases

Xiaoyan Wang
Haiying Wu
Hui Sun
Lili Wang
Linqi Chen

Frontiers in Pediatrics

doi 10.3389/fped.2022.911954

7,322 views
7 citations

Original Research

Published on 22 Jun 2022

Whole-Exome Sequencing Identifies Novel SCN1A and CACNB4 Genes Mutations in the Cohort of Saudi Patients With Epilepsy

in Genetics of Common and Rare Diseases

Muhammad Imran Naseer
Angham Abdulrhman Abdulkareem
Mahmood Rasool
Hussein Algahtani
Osama Yousef Muthaffar
Peter Natesan Pushparaj

Frontiers in Pediatrics

doi 10.3389/fped.2022.919996

6,703 views
5 citations

Original Research

Published on 22 Jun 2022

First Identification of Rare Exonic and Deep Intronic Splice-Altering Variants in Patients With Beta-Sarcoglycanopathy

in Genetics of Common and Rare Diseases

Zhiying Xie
Chengyue Sun
Chang Liu
Xujun Chu
Qiang Gang
Meng Yu
Yiming Zheng
Lingchao Meng
Fan Li
Dongliang Xia

Frontiers in Pediatrics

doi 10.3389/fped.2022.900280

3,310 views
1 citation

General Commentary

Published on 21 Jun 2022

Commentary: Point Prevalence and Associated Factors of Hip Displacement in Pediatric Patients With Mitochondrial Disease

in Genetics of Common and Rare Diseases

Josef Finsterer

Frontiers in Pediatrics

doi 10.3389/fped.2022.894611

1,054 views

Case Report

Published on 17 Jun 2022

Galloway–Mowat Syndrome Type 3 Caused by OSGEP Gene Variants: A Case Report and Literature Review

in Genetics of Common and Rare Diseases

Suhua Xu
Lan Hu
Lin Yang
Bingbing Wu
Yun Cao
Rong Zhang
Xin Xu
Haiyan Ma
Wenhao Zhou
Guoqiang Cheng

Frontiers in Pediatrics

doi 10.3389/fped.2022.899991

4,678 views
7 citations

Case Report

Published on 17 Jun 2022

Case Report: Glycogen Storage Disease Type Ia in a Chinese Child Treated With Growth Hormone

in Genetics of Common and Rare Diseases

Shimin Wu
Shusen Guo
Lina Fu
Caiqi Du
Xiaoping Luo

Frontiers in Pediatrics

doi 10.3389/fped.2022.921323

5,205 views
3 citations

Original Research

Published on 15 Jun 2022

Complex Inheritance of Rare Missense Variants in PAK2, TAP2, and PLCL1 Genes in a Consanguineous Arab Family With Multiple Autoimmune Diseases Including Celiac Disease

in Genetics of Common and Rare Diseases

Arwa Mastoor Alharthi
Babajan Banaganapalli
Sabah M. Hassan
Omran Rashidi
Bandar Ali Al-Shehri
Meshari A. Alaifan
Bakr H. Alhussaini
Hadeel A. Alsufyani
Kawthar Saad Alghamdi
Khalda Khalid Nasser

Frontiers in Pediatrics

doi 10.3389/fped.2022.895298

2,815 views
4 citations

Case Report

Published on 09 Jun 2022

Case Report: Fanconi-Bickel Syndrome in a Chinese Girl With Diabetes and Severe Hypokalemia

in Genetics of Common and Rare Diseases

Hongbo Chen
Juan-juan Lyu
Zhuo Huang
Xiao-mei Sun
Ying Liu
Chuan-jie Yuan
Li Ye
Dan Yu
Jin Wu

Frontiers in Pediatrics

doi 10.3389/fped.2022.897636

4,829 views
5 citations

Original Research

Published on 06 Jun 2022

Chromosomal Abnormalities and Pregnancy Outcomes for Fetuses With Gastrointestinal Tract Obstructions

in Genetics of Common and Rare Diseases

Xiaoqing Wu
Linjuan Su
Qingmei Shen
Qun Guo
Ying Li
Shiyi Xu
Na Lin
Hailong Huang
Liangpu Xu

Frontiers in Pediatrics

doi 10.3389/fped.2022.918130

4,405 views
4 citations

Original Research

Published on 03 Jun 2022

Fetal Aberrant Right Subclavian Artery: Associated Anomalies, Genetic Etiology, and Postnatal Outcomes in a Retrospective Cohort Study

in Genetics of Common and Rare Diseases

Meiying Cai
Na Lin
Xiangqun Fan
Xuemei Chen
Shiyi Xu
Xianguo Fu
Liangpu Xu
Hailong Huang

Frontiers in Pediatrics

doi 10.3389/fped.2022.895562

18,579 views
13 citations

Case Report

Published on 03 Jun 2022

Delayed Puberty Due to a WDR11 Truncation at Its N-Terminal Domain Leading to a Mild Form of Ciliopathy Presenting With Dissociated Central Hypogonadism: Case Report

in Genetics of Common and Rare Diseases

Sebastián Castro
Franco G. Brunello
Gabriela Sansó
Paula Scaglia
María Esnaola Azcoiti
Agustín Izquierdo
Florencia Villegas
Ignacio Bergadá
María Gabriela Ropelato
Marcelo A. Martí

Frontiers in Pediatrics

doi 10.3389/fped.2022.887658

3,703 views
1 citation

Case Report

Published on 01 Jun 2022

Duchenne Muscular Dystrophy With Low Acidic α-Glucosidase Activity: Two Case Reports and Literature Review

in Genetics of Common and Rare Diseases

Xiufang He
Xuandi Li
Yuese Lin
Hongjun Ba
Huimin Peng
Lili Zhang
Ling Zhu
Youzhen Qin
Shujuan Li

Frontiers in Pediatrics

doi 10.3389/fped.2022.855510

2,838 views
2 citations

Case Report

Published on 31 May 2022

Case Report: A Novel Intronic Mutation in AIFM1 Associated With Fatal Encephalomyopathy and Mitochondrial Disease in Infant

in Genetics of Common and Rare Diseases

Qi Peng
Keze Ma
Linsheng Wang
Yinghua Zhu
Yaozhong Zhang
Chunbao Rao
Dong Luo
Zaixue Jiang
Wei Lai
Huiling Lu

Frontiers in Pediatrics

doi 10.3389/fped.2022.889089

3,546 views
5 citations