Frontiers in Pediatrics | Genetics of Common and Rare Diseases

Original Research

Published on 21 Aug 2025

Genetic testing enhances diagnosis in critically ill neonates: insights from the first Colombian cohort

in Genetics of Common and Rare Diseases

Paula Rueda-Gaitán
Diego Alejandro Rodríguez Gutiérrez
Yuri Natalia Sanchez Rubio
Yina D. Carrillo
Leslie Ivonne Martínez de la Barrera
Néstor Nenroth Muñetones Reina
Mario Isaza-Ruget
Juan Javier López Rivera

Frontiers in Pediatrics

doi 10.3389/fped.2025.1605166

379 views

Case Report

Published on 21 Aug 2025

Case Report: Abnormal pupils caused by the mitochondrial MT-TL1 gene m.3243A>G mutation

in Genetics of Common and Rare Diseases

Yujing Li
Yihong Ding
Enzhong Jin
Hong Yin

Frontiers in Pediatrics

doi 10.3389/fped.2025.1573886

389 views

Original Research

Published on 20 Aug 2025

Genetic diagnosis and clinical characteristics analysis of cardiospondylocarpofacial syndrome in a Chinese family

in Genetics of Common and Rare Diseases

Qi Yang
Qiang Zhang
Sheng Yi
Wurui Li
Xunzhao Zhou
Shujie Zhang
Shang Yi
Qinle Zhang
Jingsi Luo

Frontiers in Pediatrics

doi 10.3389/fped.2025.1651803

286 views

Original Research

Published on 20 Aug 2025

Genetic etiology and pregnancy outcomes of fetal hyperechoic kidneys: a retrospective analysis

in Genetics of Common and Rare Diseases

Meiying Cai
Na Lin
Ziheng Xiao
Hailong Huang
Lin Zheng
Liangpu Xu

Frontiers in Pediatrics

doi 10.3389/fped.2025.1496381

289 views

Case Report

Accepted on 19 Aug 2025

A Case of Poirier-Bienvenu Neurodevelopmental Syndrome Manifesting Primarily as Eyelid Myoclonia

in Genetics of Common and Rare Diseases

Lingwei Weng
Yuanyuan He
Qingqing Deng
Chen Chen
Zhanli Liu

Frontiers in Pediatrics

doi 10.3389/fped.2025.1583346

106 views

Correction

Published on 12 Aug 2025

Correction: Case Report: Diagnosis of Gaucher disease in a toddler with acute respiratory failure

in Genetics of Common and Rare Diseases

Sarah Householder
Ruchit Nagar
Nisarg Shah
Jodi Forward
Sean Bickerton
Pramod Mistry
E. Vincent S. Faustino

Frontiers in Pediatrics

doi 10.3389/fped.2025.1651138

369 views

Case Report

Accepted on 11 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

175 views

Case Report

Published on 11 Aug 2025

Case Report: Incidental diagnosis of cystic fibrosis via whole genome sequencing alters HSCT planning in a child with cerebral X-linked adrenoleukodystrophy

in Genetics of Common and Rare Diseases

Jann Adriel Chua Sy
Poh Lin Tan
Jeremy Bingyuan Lin
Stacey Kiat-Hong Tay
Hui-Lin Chin

Frontiers in Pediatrics

doi 10.3389/fped.2025.1650645

501 views

Case Report

Published on 07 Aug 2025

Case Report: Whole genome sequencing identifies a novel deep intronic COL4A5 variant of uncertain significance in X-linked Alport syndrome

in Genetics of Common and Rare Diseases

Hoon Seok Kim
Myungshin Kim
Jin-Soon Suh
Yeonhee Lee

Frontiers in Pediatrics

doi 10.3389/fped.2025.1639471

686 views

Case Report

Published on 07 Aug 2025

Case Report: New genetic variant and widely different phenotypes observed in twins with Vanishing White Matter disease

in Genetics of Common and Rare Diseases

Ellis Oron-Lexner
Bjørk Ditlev Larsen
Maria Therese Schelde-Olesen

Frontiers in Pediatrics

doi 10.3389/fped.2025.1643040

1,117 views

Case Report

Published on 07 Aug 2025

Case Report: Parsonage-Turner syndrome due to SEPTIN9 mutation: report of an Italian family with childhood onset and review of the literature

in Genetics of Common and Rare Diseases

Luca Bosisio
Matteo Cataldi
Marina Grandis
Barbara Tappino
Monica Traverso
Francesco Germano
Lino Nobili
Chiara Fiorillo

Frontiers in Pediatrics

doi 10.3389/fped.2025.1589397

650 views

Original Research

Published on 05 Aug 2025

Clinical and genetic characterization of Lenz-Majewski syndrome with a PTDSS1 variant: a case report and literature review

in Genetics of Common and Rare Diseases

Yahua Zhang
You Wu
Lulu Yan
Yuxin Zhang
Haibo Li
Yan He

Frontiers in Pediatrics

doi 10.3389/fped.2025.1617541

669 views

Case Report

Accepted on 04 Aug 2025

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 Maimaititusvn
Maierhaba Kulaixi
Abudouwaili Atawula
Fang Liu

Frontiers in Pediatrics

doi 10.3389/fped.2025.1530177

657 views

Case Report

Published on 28 Jul 2025

Diagnosis and genetic analysis of Gaucher disease in a pediatric case: a case report

in Genetics of Common and Rare Diseases

Mengting Ma
Nan Wu
Jie Feng
Xu Sang
Feixiang Duan
Congcong Li
Qiang Zhang

Frontiers in Pediatrics

doi 10.3389/fped.2025.1628525

711 views

Case Report

Published on 25 Jul 2025

Case Report: A Chinese family with MYH9-RD caused by MYH9 p.E1841K mutation exhibiting widespread may-hegglin inclusions

in Genetics of Common and Rare Diseases

Xiaoqiang Lian
Haixia Li
Jihong Hao
Haixin Li
Ling Xu
Shuxia Zhang
Li Cao
Ruimin Li

Frontiers in Pediatrics

doi 10.3389/fped.2025.1588675

954 views

Original Research

Accepted on 22 Jul 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

294 views