Frontiers in Pediatrics | Genetics of Common and Rare Diseases

Case Report

Accepted on 22 Apr 2025

De novo variant in NUS1 gene associated with developmental delay and autism spectrum disorders in a Chinese family: a case report

in Genetics of Common and Rare Diseases

Feng Ding
Junlin Pan
Shuhua Ji
Yan Zhang
Hou Jinwei
Na Shi
Haiping Liu

Frontiers in Pediatrics

doi 10.3389/fped.2025.1557103

Original Research

Published on 17 Apr 2025

Incidental finding of a DMD exons 48–55 deletion during prenatal diagnosis

in Genetics of Common and Rare Diseases

Min Zhang
Zhaodong Lin
Meihuan Chen
Danhua Guo
Qiaomei Yang
Qianqian He
Bin Mao
Bin Liang
Lingji Chen
Meiying Cai

Frontiers in Pediatrics

doi 10.3389/fped.2025.1541468

262 views

Case Report

Accepted on 14 Apr 2025

Congenital Hypotrichosis Caused by Compound Heterozygous Variants in the LSS Gene in a Chinese Patient with Strabismus: Case Report

in Genetics of Common and Rare Diseases

Linlin Bao
Qian Li
Zhicao Yue
Fang Yang

Frontiers in Pediatrics

doi 10.3389/fped.2025.1512646

Case Report

Published on 10 Apr 2025

Case Report: A novel missense variant in ZC4H2, c.196C>T p.(Leu66Phe), is associated with a mild, ZC4H2-related X-linked syndromic intellectual disability (ZARD) phenotype

in Genetics of Common and Rare Diseases

Ria Garg
Wenying Zhang
Julianne E. Hartmann
Anne Slavotinek

Frontiers in Pediatrics

doi 10.3389/fped.2025.1518782

358 views

Case Report

Published on 14 Mar 2025

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.2025.1476541

580 views

Case Report

Published on 07 Mar 2025

A novel missense variant of FBN1 gene in a Sardinian family with Marfan syndrome: a case report

in Genetics of Common and Rare Diseases

Marina Marsan
Mattia Brutti
F. Meloni
M. Marica
C. Soddu
F. Lai
D. Martorana
S. Savasta

Frontiers in Pediatrics

doi 10.3389/fped.2025.1549504

553 views

Case Report

Published on 03 Mar 2025

Case Report: A novel DLL4 variant in a neonate with Adams-Oliver syndrome

in Genetics of Common and Rare Diseases

Yanping Huang
Jin Wang
Lingkong Zeng
Shi Wang
Xuechen Zhang

Frontiers in Pediatrics

doi 10.3389/fped.2025.1532561

502 views

Original Research

Published on 27 Feb 2025

Eliglustat substrate reduction therapy in children with Gaucher disease type 1

in Genetics of Common and Rare Diseases

Noor Ul Ain
Armaan Saith
Audrey Ruan
Ruhua Yang
Aaron Burton
Pramod K. Mistry

Frontiers in Pediatrics

doi 10.3389/fped.2025.1543136

1,070 views

Case Report

Published on 13 Feb 2025

TUBGCP2 variants cause lissencephaly spectrum disorders: a case report and literature review

in Genetics of Common and Rare Diseases

Tao Yu
Miao Yu
Xueyan Liu
Hua Wang

Frontiers in Pediatrics

doi 10.3389/fped.2025.1476390

721 views

Case Report

Published on 10 Feb 2025

Functional analysis of a novel homozygous missense IVD gene variant: a case report with dual genetic diagnoses

in Genetics of Common and Rare Diseases

Yuying Zhu
Ke Wu
Hanying Wen

Frontiers in Pediatrics

doi 10.3389/fped.2025.1494530

797 views

Case Report

Published on 22 Jan 2025

Case Report: The first Korean familial case of BCAP31-related deafness, dystonia, and cerebral hypomyelination

in Genetics of Common and Rare Diseases

Yoong-A Suh
Jisun Hwang
Go Hun Seo
Rin Khang
Jang Hoon Lee
Moon Sung Park
Young Bae Sohn

Frontiers in Pediatrics

doi 10.3389/fped.2024.1488095

707 views

Case Report

Published on 21 Jan 2025

SMARCA4-related Coffin-Siris syndrome in newborn: a case report and literature review

in Genetics of Common and Rare Diseases

Yuqian Wang
Li Zhang
Jing Zhu
Liu Yang
Chan Wang
Ning Zou

Frontiers in Pediatrics

doi 10.3389/fped.2024.1493380

1,109 views

Original Research

Published on 17 Jan 2025

Genetic screening strategy for children with hereditary spherocytosis in Jiangxi Province of China

in Genetics of Common and Rare Diseases

Chongjun Wu
Zhongjin Xu
Qian Wan
Feng Chen
Yao Ye
Hong Wang

Frontiers in Pediatrics

doi 10.3389/fped.2024.1487121

647 views
1 citation

Case Report

Published on 15 Jan 2025

Case Report: Diagnosis and treatment of incontinentia pigmenti with central nervous system anomalies in one patient

in Genetics of Common and Rare Diseases

Yun Li
Junbin Hong
Shangge Xu
Tong Zhou
Xiaolan Xiao
Jinghua Yang
Yiting Chen

Frontiers in Pediatrics

doi 10.3389/fped.2024.1490816

830 views

Case Report

Published on 14 Jan 2025

Case Report: Prenatal diagnosis of novel compound heterozygous variants in WDR35 gene causing short-rib thoracic dysplasia 7 with or without polydactyly

in Genetics of Common and Rare Diseases

Jianlong Zhuang
Junyu Wang
Zhengping Huang
Yu’e Chen
Chunnuan Chen

Frontiers in Pediatrics

doi 10.3389/fped.2024.1503455

575 views

Original Research

Published on 13 Jan 2025

Biochemical characteristics, genetic variants and treatment outcomes of 55 Chinese cases with neonatal intrahepatic cholestasis caused by citrin deficiency

in Genetics of Common and Rare Diseases

Juan Li
Jintao Duan
Shuli He
Ying Li
Meifen Wang
Chengjun Deng

Frontiers in Pediatrics

doi 10.3389/fped.2024.1293356

806 views