Frontiers in Pediatrics | Genetics of Common and Rare Diseases

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

139 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

Case Report

Accepted on 31 Jul 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

Original Research

Accepted on 30 Jul 2025

Genetic Testing Enhances Diagnosis in Critically Ill Neonates: Insights from the First Colombian Cohort

in Genetics of Common and Rare Diseases

Paula Rueda-Gaitan
Diego Alejandro Rodriguez Gutierrez
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

Case Report

Accepted on 28 Jul 2025

Incidental Diagnosis of Cystic Fibrosis via Whole Genome Sequencing Alters HSCT Planning in a Child with Cerebral X-Linked Adrenoleukodystrophy Authors

in Genetics of Common and Rare Diseases

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

Frontiers in Pediatrics

doi 10.3389/fped.2025.1650645

175 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

381 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

620 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

256 views

Case Report

Accepted on 21 Jul 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

382 views

Case Report

Accepted on 17 Jul 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

174 views

Original Research

Published on 17 Jul 2025

Research on biliary atresia and epigenetic factors from the perspective of transcriptomics: identification of key genes and experimental validation

in Genetics of Common and Rare Diseases

Zhao Na
Hang Yang
Li Chen
Han Xiao
Bo Hai
Chuanxin Li
Xiaohui Xie
Qiang Bai

Frontiers in Pediatrics

doi 10.3389/fped.2025.1624671

620 views

Correction

Accepted on 14 Jul 2025

Correction: Diagnosis of Gaucher Disease in Toddler with Acute Respiratory Failure: A Case Report

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

136 views

Original Research

Published on 14 Jul 2025

Case report and literature review: novel TXNRD2 compound heterozygous variants in familial glucocorticoid deficiency type 5

in Genetics of Common and Rare Diseases

Xiaoyan Wang
Xiuli Chen
Ting Chen
Rongrong Xie
Qi Lin Chen
Haiying Wu
Fengyun Wang

Frontiers in Pediatrics

doi 10.3389/fped.2025.1585582

465 views

Case Report

Accepted on 10 Jul 2025

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

210 views

Case Report

Published on 10 Jul 2025

PURA syndrome—a genetic cause of a neurodevelopmental disorder—case report

in Genetics of Common and Rare Diseases

Jacek Kobak
Mateusz Szczupak
Karolina Czerkiewicz
Sergiusz Bielocerkowski
Sabina Krupa-Nurcek

Frontiers in Pediatrics

doi 10.3389/fped.2025.1607213

800 views

Systematic Review

Published on 04 Jul 2025

Prevalence of IVIG resistance in Kawasaki disease: a systematic review and meta-analysis

in Genetics of Common and Rare Diseases

Shuting Zou
Bingyu Hu

Frontiers in Pediatrics

doi 10.3389/fped.2025.1566590

1,294 views