Frontiers in Pediatrics | Genetics of Common and Rare Diseases

Original Research

Published on 11 Jan 2023

Clinical and molecular characterization of a patient with MBTPS1 related spondyloepiphyseal dysplasia: Evidence of pathogenicity for a synonymous variant

in Genetics of Common and Rare Diseases

Yeqing Yuan
Qiaoli Zhou
Chunli Wang
Wei Zhou
Wei Gu
Bixia Zheng

Frontiers in Pediatrics

doi 10.3389/fped.2022.1056141

2,296 views
4 citations

Case Report

Published on 11 Jan 2023

Haploinsufficiency of A20 in a Chinese child caused by loss-of-function mutations in TNFAIP3: A case report and review of the literature

in Genetics of Common and Rare Diseases

Jing Liu
Yuese Lin
Xuandi Li
Hongjun Ba
Xiufang He
Huimin Peng
Shujuan Li
Ling Zhu

Frontiers in Pediatrics

doi 10.3389/fped.2022.990008

2,523 views
4 citations

Original Research

Published on 10 Jan 2023

Novel homozygous silent mutation of ITGB3 gene caused Glanzmann thrombasthenia

in Genetics of Common and Rare Diseases

Zhengrong Wang
Yuqing Xu
Yixi Sun
Shuang Wang
Minyue Dong

Frontiers in Pediatrics

doi 10.3389/fped.2022.1062900

3,097 views
5 citations

Case Report

Published on 06 Jan 2023

Autosomal dominant chronic mucocutaneous candidiasis with STAT1 mutation can be associated with chronic active hepatitis: A case report

in Genetics of Common and Rare Diseases

Lingling Liu
Yuan Huang
Yi Liao
Sainan Shu

Frontiers in Pediatrics

doi 10.3389/fped.2022.990729

2,938 views
1 citation

Case Report

Published on 04 Jan 2023

Case report: A novel c.1842_1845dup mutation of ETFDH in two Chinese siblings with multiple acyl-CoA dehydrogenase deficiency

in Genetics of Common and Rare Diseases

Gaopin Yuan
Xiaohong Zhang
Tingli Chen
Jiansheng Lin

Frontiers in Pediatrics

doi 10.3389/fped.2022.1038440

1,675 views
1 citation

Original Research

Published on 09 Dec 2022

A frameshift mutation of TMPRSS3 in a Chinese family with non-syndromic hearing loss

in Genetics of Common and Rare Diseases

Jingwen Liang
Zhuoheng Yu
Zhangxing Wang
Jianxia Chen
Yihuan Liu
Zhaoqing Yin
Ruihuan Xu

Frontiers in Pediatrics

doi 10.3389/fped.2022.1032659

1,709 views
2 citations

Case Report

Published on 07 Dec 2022

Two novel mutations in VPS33B gene cause a milder ARC syndrome with prolonged survival in a 12-year-old patient: Case report

in Genetics of Common and Rare Diseases

Yingjie Zhu
Dongmei Chen

Frontiers in Pediatrics

doi 10.3389/fped.2022.1041080

2,219 views
2 citations

Original Research

Published on 02 Dec 2022

Molecular diagnosis of autosomal dominant congenital cataract in two families from North India reveals a novel and a known variant in GJA8 and GJA3

in Genetics of Common and Rare Diseases

Vanita Vanita
Shiwali Goyal
Shailja Tibrewal
Suma Ganesh

Frontiers in Pediatrics

doi 10.3389/fped.2022.1003909

1,859 views
1 citation

Case Report

Published on 01 Dec 2022

Case report: Compound heterozygosity in PKLR gene with a large exon deletion and a novel rare p.Gly536Asp variant as a cause of severe pyruvate kinase deficiency

in Genetics of Common and Rare Diseases

Minsun Kim
Seung Yeob Lee
Namsu Kim
Jaehyeon Lee
Dal Sik Kim
Joonhong Park
Yong Gon Cho

Frontiers in Pediatrics

doi 10.3389/fped.2022.1022980

2,273 views
1 citation

Correction

Published on 30 Nov 2022

Corrigendum: Single nucleotide polymorphisms interactions of the surfactant protein genes associated with respiratory distress syndrome susceptibility in preterm infants

in Genetics of Common and Rare Diseases

Shaili Amatya
Meixia Ye
Lili Yang
Chintan K. Gandhi
Rongling Wu
Beth Nagourney
Joanna Floros

Frontiers in Pediatrics

doi 10.3389/fped.2022.1069526

967 views

Case Report

Published on 29 Nov 2022

Hutchinson-Gilford progeria syndrome complicated with stroke: A report of 2 cases and literature review

in Genetics of Common and Rare Diseases

Jingjing Wang
Qinmei Yu
Xiaohui Ma
Zhefeng Yuan
Jianhua Mao

Frontiers in Pediatrics

doi 10.3389/fped.2022.1056225

4,097 views
6 citations

Case Report

Published on 28 Nov 2022

Cardiocerebral channelopathy caused by KCND3 mutation in a child: A case report

in Genetics of Common and Rare Diseases

Yi Zhang
He Jiang
Xiao-mei Li

Frontiers in Pediatrics

doi 10.3389/fped.2022.1019122

2,145 views
1 citation

Original Research

Published on 23 Nov 2022

Favorable outcome of empagliflozin treatment in two pediatric glycogen storage disease type 1b patients

in Genetics of Common and Rare Diseases

Zufit Hexner-Erlichman
Maria Veiga-da-Cunha
Yoav Zehavi
Zahava Vadasz
Adi D. Sabag
Sameh Tatour
Ronen Spiegel

Frontiers in Pediatrics

doi 10.3389/fped.2022.1071464

3,411 views
25 citations

Correction

Published on 21 Nov 2022

Corrigendum: Dietary fiber and probiotics based on gut microbiota targeting for functional constipation in children with cerebral palsy

in Genetics of Common and Rare Diseases

Congfu Huang
Jinli Lyu
Chunuo Chu
Lan Ge
Yuanping Peng
Zhenyu Yang
Shenghua Xiong
Bin Wu
Xiao Chen
Xiaowei Zhang

Frontiers in Pediatrics

doi 10.3389/fped.2022.1074856

1,504 views
4 citations

Case Report

Published on 18 Nov 2022

Novel SRY-box transcription factor 9 variant in campomelic dysplasia and the location of missense and nonsense variants along the protein domains: A case report

in Genetics of Common and Rare Diseases

Carlos A. Calvache
Estefanía C. Vásquez
Vanessa I. Romero
Kazuyoshi Hosomichi
Juan C. Pozo

Frontiers in Pediatrics

doi 10.3389/fped.2022.975947

1,716 views
4 citations

Case Report

Published on 18 Nov 2022

Case Report: De novo variant in myelin regulatory factor in a Chinese child with 46,XY disorder/difference of sex development, cardiac and urogenital anomalies, and short stature

in Genetics of Common and Rare Diseases

Hui Wang
Dian Wu
De-Hua Wu
Hong-Juan Tian
Hai-Feng Li
Ke-Wen Jiang
Chao-Chun Zou

Frontiers in Pediatrics

doi 10.3389/fped.2022.1027832

2,586 views
1 citation