Frontiers in Pediatrics | Genetics of Common and Rare Diseases

Case Report

Published on 25 Sep 2024

Alström syndrome—wide clinical variability within the same variant: a case report and literature review

in Genetics of Common and Rare Diseases

Diana Jecan-Toader
Adrian Trifa
Bogdan Lucian
Tudor Lucian Pop
Simona Sorana Cainap

Frontiers in Pediatrics

doi 10.3389/fped.2024.1463903

1,593 views
1 citation

Original Research

Published on 18 Sep 2024

Novel loss-of-function variants in WDR26 cause Skraban-Deardorff syndrome in two Chinese patients

in Genetics of Common and Rare Diseases

Qi Yang
Xunzhao Zhou
Sheng Yi
XiaoLing Li
Qiang Zhang
Shujie Zhang
Li Lin
Shang Yi
Biyan Chen
Zailong Qin

Frontiers in Pediatrics

doi 10.3389/fped.2024.1429586

1,773 views

Original Research

Published on 16 Sep 2024

Transcriptome meta-analysis of Kawasaki disease in humans and mice

in Genetics of Common and Rare Diseases

Wanjun Gu
Sarah Mirsaidi-Madjdabadi
Francisco Ramirez
Tatum S. Simonson
Ayako Makino

Frontiers in Pediatrics

doi 10.3389/fped.2024.1423958

2,134 views
1 citation

Case Report

Published on 12 Sep 2024

Case Report: Cerebral folate deficiency caused by FOLR1 variant

in Genetics of Common and Rare Diseases

Qian Wang
Jie Yang
Chunmei Yu
Yao Deng
Qianhui Wen
Hua Yang
Hao Liu
Rong Luo

Frontiers in Pediatrics

doi 10.3389/fped.2024.1434209

1,667 views

Brief Research Report

Published on 12 Sep 2024

In-depth analysis of OTC A208T case induced by OTC gene mutation and research on the prediction and simulation of the impact on protein function

in Genetics of Common and Rare Diseases

Qingyang Hu
Haiming Chen
Tianyi Liu
Xue Dong
Xuejiao Hu
Wenxin Yan
Zhong Li

Frontiers in Pediatrics

doi 10.3389/fped.2024.1450859

1,098 views

Original Research

Published on 10 Sep 2024

Whole-exome sequencing reveals Kawasaki disease susceptibility genes and their association with coronary artery lesion

in Genetics of Common and Rare Diseases

Yazhou Wang
Xuepeng Chen
Dufei Zhang
Renwei Chen
Ailixiati Alifu

Frontiers in Pediatrics

doi 10.3389/fped.2024.1400123

1,061 views
1 citation

Original Research

Published on 06 Sep 2024

Identification of a novel FERMT1 variant causing kindler syndrome and a review of the clinical and molecular genetic features in Chinese patients

in Genetics of Common and Rare Diseases

Qiang Zhang
Qi Yang
Fei Shen
Linlin Wang
Jingsi Luo

Frontiers in Pediatrics

doi 10.3389/fped.2024.1425030

999 views
1 citation

Original Research

Published on 29 Aug 2024

A novel and apparent de novo ALAS2 missense variant associated with congenital sideroblastic anemia

in Genetics of Common and Rare Diseases

Jianling Cai
Tianming Liu
Yuxuan Huang
Hongxing Chen
Meidie Yu
Dongqing Zhang
Zhanqin Huang

Frontiers in Pediatrics

doi 10.3389/fped.2024.1411676

1,197 views

Original Research

Published on 27 Aug 2024

The mediating role of metabolites between gut microbiome and Hirschsprung disease: a bidirectional two-step Mendelian randomization study

in Genetics of Common and Rare Diseases

Zhe Wang
Bingjun Gao
Xiao Liu
Aiwu Li

Frontiers in Pediatrics

doi 10.3389/fped.2024.1371933

1,439 views

Case Report

Published on 15 Jul 2024

Case Report: Two different acromelic dysplasia phenotypes in a Chinese family caused by a missense mutation in FBN1 and a literature review

in Genetics of Common and Rare Diseases

Fengyan Tian
Xiao Dong
Ruyue Yuan
Xiaohan Hou
Jing Qing
Yani Li

Frontiers in Pediatrics

doi 10.3389/fped.2024.1428513

1,541 views

Original Research

Published on 15 Jul 2024

Enzymatic testing for mucopolysaccharidosis type I in Kuwaiti newborns: a preliminary study toward newborn screening

in Genetics of Common and Rare Diseases

Hind Alsharhan
Mohammad Z. Haider
Bann Qadoura
Mariam Ayed
Gursev S. Dhaunsi
Hessa Alkandari

Frontiers in Pediatrics

doi 10.3389/fped.2024.1376053

1,334 views
1 citation

Original Research

Published on 04 Jul 2024

Rapid genome sequencing for critically ill infants: an inaugural pilot study from Turkey

in Genetics of Common and Rare Diseases

Bengisu Guner Yilmaz
Ozlem Akgun-Dogan
Ozkan Ozdemir
Bayram Yuksel
Ozden Hatirnaz Ng
Kaya Bilguvar
Beril Ay
Gulsah Sebnem Ozkose
Eylul Aydin
Ayca Yigit

Frontiers in Pediatrics

doi 10.3389/fped.2024.1412880

2,840 views
1 citation

Case Report

Published on 04 Jul 2024

Identification of a novel METTL23 gene variant in a patient with an intellectual development disorder: a literature review and case report

in Genetics of Common and Rare Diseases

Jian Zha
Yong Chen
Fangfang Cao
Yanghong Yu
Ruiyan Wang
Jianmin Zhong

Frontiers in Pediatrics

doi 10.3389/fped.2024.1328063

1,624 views

Original Research

Published on 26 Jun 2024

Identification of diagnostic biomarkers and potential therapeutic targets for biliary atresia via WGCNA and machine learning methods

in Genetics of Common and Rare Diseases

Lei Xu
Ting Xiao
Biao Zou
Zhihui Rong
Wei Yao

Frontiers in Pediatrics

doi 10.3389/fped.2024.1339925

1,543 views

Case Report

Published on 11 Jun 2024

Bardet-Biedl syndrome in a 19-year-old male: the first case report from Palestine

in Genetics of Common and Rare Diseases

Hamza B. Karmi
Yahya Abu Jwaid
Mohammad Hakam Shehadeh
Dareen Njoom
Aya Awwad
Hasan Eideh

Frontiers in Pediatrics

doi 10.3389/fped.2024.1420684

2,244 views

Original Research

Published on 31 May 2024

A mild phenotype associated with KCNQ1 p.V205M mediated long QT syndrome in First Nations children of Northern British Columbia: effect of additional variants and considerations for management

in Genetics of Common and Rare Diseases

Simona Bene Watts
Barbara Gauthier
Anders C. Erickson
Julie Morrison
Mavis Sebastian
Lawrence Gillman
Sarah McIntosh
Connie Ens
Elizabeth Sherwin
Rod McCormick

Frontiers in Pediatrics

doi 10.3389/fped.2024.1394105

1,497 views
1 citation