Frontiers in Pediatrics | Genetics of Common and Rare Diseases

Original Research

Accepted on 30 Sep 2025

Analysis of Deafness Gene Screening Results in 15771 Newborn Cases in Anyang City of Henan

in Genetics of Common and Rare Diseases

Yanchao Mu
Meiqing Han
Yang Li
Hua Di
Zhengxin Li
Dawei Wang
Haiyan Li
Xue Li
Lei Zhang
Huiping An

Frontiers in Pediatrics

doi 10.3389/fped.2025.1645070

130 views

Case Report

Accepted on 29 Sep 2025

De Novo Frameshift Mutation in SYNGAP1 Resulting in Autosomal dominant mental retardation type 5 and Autism Spectrum Disorder: A Case Report

in Genetics of Common and Rare Diseases

Shungzhu lin
Yangfan Qi
Hongyan Xie
Wanqi Wang
Kai Jiang

Frontiers in Pediatrics

doi 10.3389/fped.2025.1671464

180 views

Case Report

Accepted on 29 Sep 2025

Case Report: Fetal Cardiac Rhabdomyoma Caused by TSC1 Mutation

in Genetics of Common and Rare Diseases

Xueqin Feng
Qinggui Ren
Haihong Li
Xinying Liu
Lijuan Li

Frontiers in Pediatrics

doi 10.3389/fped.2025.1681439

137 views

Brief Research Report

Published on 26 Sep 2025

Prevalence of Fragile X syndrome in Georgian patients with autism spectrum disorder and/or intellectual disability: cross-sectional study and review of current approaches

in Genetics of Common and Rare Diseases

Nazi Tabatadze
Otar Koniashvili
Gia Melikishvili
Thierry Bienvenu
Laurence Cuisset
Flora Tassone
Dragana D. Protic
Nino Naneishvili
Maia Zarandia
Sopo Gverdtsiteli

Frontiers in Pediatrics

doi 10.3389/fped.2025.1645386

1,121 views

Case Report

Accepted on 23 Sep 2025

Unveiling CHARGE Syndrome: A Neonatal Case Study with Esophageal Atresia and Feeding Difficulties

in Genetics of Common and Rare Diseases

FangJian Gao
ShuYan Li
Li Hu
YaLi Zeng
JianWu Qiu

Frontiers in Pediatrics

doi 10.3389/fped.2025.1618512

455 views

Case Report

Published on 22 Sep 2025

Case Report: Clinical case analysis of gaucher disease management in a resource-limited setting: a single center experience from Kashigar, Xinjiang Uygur Autonomous Region, the Western China

in Genetics of Common and Rare Diseases

Gulinuer Maimaititusvn
Maierhaba Kulaixi
Abudouwaili Atawula
Fang Liu

Frontiers in Pediatrics

doi 10.3389/fped.2025.1530177

1,192 views

Brief Research Report

Accepted on 18 Sep 2025

Mild features of partial PAX3 deletion in patients with Waardenburg Syndrome in prenatal: case report and literature review

in Genetics of Common and Rare Diseases

Qi Chen
Lin Shi
Yunpeng Chen
Xinyu Cao
Yan Yang

Frontiers in Pediatrics

doi 10.3389/fped.2025.1642132

646 views

Case Report

Published on 18 Sep 2025

A novel ANK1 frameshift mutation associated with neonatal hereditary spherocytosis: a case report

in Genetics of Common and Rare Diseases

Xin Qing
Jimo Zhu
Xiaoshi Zhu
Yu Zhang
Junchao Deng
Binzhi Tang

Frontiers in Pediatrics

doi 10.3389/fped.2025.1666585

1,147 views

Case Report

Published on 16 Sep 2025

Case Report: A novel heterozygous variant of the TCOF1 gene in Treacher Collins syndrome

in Genetics of Common and Rare Diseases

Lijuan Zhang
Fei Wang
Yanfang Zhu
Hongxiao Zhang
Yahong Liu

Frontiers in Pediatrics

doi 10.3389/fped.2025.1615309

829 views

Case Report

Published on 12 Sep 2025

Case Report: Biallelic variants in MRPS36, encoding a component of the 2-oxoglutarate dehydrogenase complex, cause leigh syndrome

in Genetics of Common and Rare Diseases

Huafang Jiang
Chaolong Xu
Zhimei Liu
Ruoyu Duan
Xingfeng Yao
Xiaona Fu
Jiatong Xu
Xuejing Kang
Tenghui Yu
Yuanyuan Wang

Frontiers in Pediatrics

doi 10.3389/fped.2025.1608840

787 views

Original Research

Published on 05 Sep 2025

Clinical features and infection risks of Chinese children with different types of Gaucher disease

in Genetics of Common and Rare Diseases

Chuan Gan
Yuanyuan Wu
Tao Qin

Frontiers in Pediatrics

doi 10.3389/fped.2025.1595394

1,087 views

Original Research

Published on 04 Sep 2025

Paternal mosaicism in ASXL3-related bainbridge-ropers syndrome: implications for genetic counseling and prenatal diagnosis

in Genetics of Common and Rare Diseases

Bowen Zhao
Fengjuan Ding
Fei Hou
Hua Jin

Frontiers in Pediatrics

doi 10.3389/fped.2025.1655021

817 views

Case Report

Published on 04 Sep 2025

Novel lamin B receptor mutation (c.561C > G) in a patient with Pelger-Huët anomaly: a case report

in Genetics of Common and Rare Diseases

Jiaojiao Yin
Dan Huang
Zhenya Liu
Enpeng Zhu
Chong Zhang
Linyan Wang
Bing Li

Frontiers in Pediatrics

doi 10.3389/fped.2025.1587175

910 views

Case Report

Published on 03 Sep 2025

Case Report: A case of Poirier–Bienvenu neurodevelopmental syndrome manifesting primarily as eyelid myoclonia

in Genetics of Common and Rare Diseases

Yuanyuan He
Qingqing Deng
Chen Chen
Zhanli Liu
Lingwei Weng

Frontiers in Pediatrics

doi 10.3389/fped.2025.1583346

855 views

Original Research

Accepted on 29 Aug 2025

Oxidative Stress-Mediated Apoptosis via SLC23A2-Ascorbic Acid Interaction Contributes to Cleft Lip Development

in Genetics of Common and Rare Diseases

Bin Yin
Yi Chen Xu
Yong Lu

Frontiers in Pediatrics

doi 10.3389/fped.2025.1632778

248 views

Case Report

Published on 26 Aug 2025

Case Report: Observation of early-onset high myopia with fundus tessellation changes in Coffin–Siris syndrome 9 (CSS9) and literature review

in Genetics of Common and Rare Diseases

Ruohao Wu
Yu Li
Zhanwen He
Zhe Meng
Wenting Tang
Liyang Liang

Frontiers in Pediatrics

doi 10.3389/fped.2025.1603863

972 views