Frontiers in Pediatrics | Genetics of Common and Rare Diseases

Review

Published on 05 Nov 2025

From FGFR2 mutations to precision management: a review of prenatal diagnosis and multidisciplinary interventions in apert syndrome

in Genetics of Common and Rare Diseases

Hong Li
Junling Shen
Mei Tang
Siran Wan
Shunhong Zhang

Frontiers in Pediatrics

doi 10.3389/fped.2025.1658654

571 views

Case Report

Accepted on 03 Nov 2025

Amino acid supplementation in mitochondrial aminoacyl-tRNA synthetase defects: two case reports of tyrosine supplementation in YARS2-associated disease and a review of the literature

in Genetics of Common and Rare Diseases

Giulia Ferrera
Giorgia Segre
Eleonora Lamantea
Daniele Ghezzi
Marta Rivelli
Anna Ardissone

Frontiers in Pediatrics

116 views

Original Research

Accepted on 31 Oct 2025

Incidence and Disease Spectrum of Inherited Metabolic Diseases Screened by Tandem Mass Spectrometry in Huai'an from 2018 to 2024

in Genetics of Common and Rare Diseases

Chun-tao Sun
Ming-ming Ou
Li Zhang
Ling-li Kong
Lin-xin Zhang
Jun Zheng
Pei-ying Zhang
Yu-mei Wang
Xiao-fei Lin
Xin Yang

Frontiers in Pediatrics

Review

Accepted on 28 Oct 2025

Rapid Whole Whole Genome Sequencing in Newborn Screening for Metabolic Diseases

in Genetics of Common and Rare Diseases

Jun Zheng
Xin Yang

Frontiers in Pediatrics

167 views

Case Report

Published on 28 Oct 2025

KBG syndrome complicated with chylothorax in a newborn: a case report and literature review

in Genetics of Common and Rare Diseases

Yuqian Wang
Xin Peng
Jing Zhu
Ning Zou
Xiaotong Yu
Liu Yang

Frontiers in Pediatrics

doi 10.3389/fped.2025.1690056

556 views

Systematic Review

Accepted on 24 Oct 2025

INFLUENCE OF GESTATIONAL HISTORY ON NEURAL TUBE DEFECTS AND EISENMENGER SYNDROME: ASSOCIATIONS WITH INTELLECTUAL DISABILITYAND VISUAL IMPAIRMENT IN CHILDREN AND ADULTS – A SYSTEMATIC REVIEW

in Genetics of Common and Rare Diseases

Dianasari Dianasari
Chamelia Rohadatul 'Aissy
R. Mohamad Javier
Gabriela Nativity
Syarif Syamsi Ahyandi
Siti Hani Amiralevi
Faisal Gani Putra Arlond
Khomariyana Purnama Sari
Mohammad Reza Riandinata
Crysciando Jefryco Putra

Frontiers in Pediatrics

438 views

Case Report

Published on 24 Oct 2025

A novel frameshift STAG1 variant exhibiting haploinsufficiency due to the nonsense-mediated mRNA decay: a case report and literature review

in Genetics of Common and Rare Diseases

Cuicui Jiang
Ke Wu
Ying Zhou

Frontiers in Pediatrics

doi 10.3389/fped.2025.1648430

600 views

Original Research

Published on 24 Oct 2025

Novel SSR4 gene splice variant leads to congenital disorder of glycosylation, type Iy

in Genetics of Common and Rare Diseases

Ning Li
Chen Chen

Frontiers in Pediatrics

doi 10.3389/fped.2025.1651524

438 views

Case Report

Published on 23 Oct 2025

Case Report: 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

920 views

Case Report

Published on 23 Oct 2025

De novo missense mutation in MYT1l leading to autosomal dominant intellectual disability 39 and autism spectrum disorder: a case report

in Genetics of Common and Rare Diseases

Xin Wang
Shuangzhu Lin
Yang Chen
Yangfan Qi
Xiaoyu Sun
Wanqi Wang
Kai Jiang

Frontiers in Pediatrics

doi 10.3389/fped.2025.1672911

688 views

Original Research

Published on 21 Oct 2025

A novel frameshift variant in the MED13 gene causing intellectual developmental disorder-61 in a Chinese family

in Genetics of Common and Rare Diseases

Qi Yang
Qiang Zhang
Sheng Yi
Gaojie Huang
Xunzhao Zhou
Shang Yi
Jingsi Luo

Frontiers in Pediatrics

doi 10.3389/fped.2025.1699544

684 views

Case Report

Published on 20 Oct 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

Shuangzhu Lin
Yangfan Qi
Hongyan Xie
Xiaoyu Sun
Wanqi Wang
Kai Jiang

Frontiers in Pediatrics

doi 10.3389/fped.2025.1671464

1,054 views

Original Research

Published on 17 Oct 2025

Enzyme replacement therapy in infants and very young children with Gaucher disease using velaglucerase alfa: a single-center experience

in Genetics of Common and Rare Diseases

Ozlem Goker-Alpan
Margarita M. Ivanova
Ravi Pathak
Ekaterina Wright

Frontiers in Pediatrics

doi 10.3389/fped.2025.1613599

1,550 views

Opinion

Published on 16 Oct 2025

Globalizing newborn screening: bridging gaps in genetic diagnosis and treatment

in Genetics of Common and Rare Diseases

Huma Tariq
Vincenzo Salpietro
Henry Houlden
Giovanni Stevanin

Frontiers in Pediatrics

doi 10.3389/fped.2025.1672993

850 views

Original Research

Published on 16 Oct 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
Haiyan Li
Dawei Wang
Xue Li
Lei Zhang
Huiping An

Frontiers in Pediatrics

doi 10.3389/fped.2025.1645070

877 views

Brief Research Report

Published on 10 Oct 2025

Mild features of partial PAX3 deletion in patients with prenatal Waardenburg syndrome: a 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

1,364 views