Frontiers in Genetics | Genetics of Common and Rare Diseases

Case Report

Published on 17 Apr 2025

CEBPA-associated familial acute myeloid leukemia mimicking Werner syndrome: a case report

in Genetics of Common and Rare Diseases

Tanguy Demaret
Damien Feret
Barbara Lambert
Delphine Pranger
Jean-Louis Dargent
Maria Dolores Martin Martinez
Antonio Renda
Isabelle Maystadt

Frontiers in Genetics

doi 10.3389/fgene.2025.1575651

640 views

Case Report

Published on 17 Apr 2025

Estrogen-secreting testicular tumors in 46,XY female patients with 17α-hydroxylase/17,20-lyase deficiency: two unusual case reports and a review of the literature

in Genetics of Common and Rare Diseases

Julio Americo Pereira Batatinha
Mirian Yumie Nishi
Rafael Loch Batista
José Antônio Diniz Faria Júnior
Maria Helena Palma Sircili
Francisco Tibor Denes
Maria Jimena Chafloque Mesia
Laura da Silva Salvanini
Elaine Maria Frade Costa
Filomena Marino Carvalho

Frontiers in Genetics

doi 10.3389/fgene.2025.1508792

520 views

Case Report

Published on 16 Apr 2025

A novel SIGMAR1 missense mutation leads to distal hereditary motor neuropathy phenotype mimicking juvenile ALS: a case report of China

in Genetics of Common and Rare Diseases

Qinglong Yu
Risna Begam Mohammed Nazar
Sihui Chen
Qiaoling Qian
Junhui Wang
Xueping Chen

Frontiers in Genetics

doi 10.3389/fgene.2025.1477518

612 views

Case Report

Published on 11 Apr 2025

A novel nonsense mutation in SCAF4 associated with fliedner-zweier syndrome: a case report and review of the literature

in Genetics of Common and Rare Diseases

Zhengfang Chen
Jing Zhao
Xiaoxuan Fan
Xiaoyan Xuan
Xiaoke Zhao

Frontiers in Genetics

doi 10.3389/fgene.2025.1487352

524 views

Correction

Published on 11 Apr 2025

Corrigendum: Application of rapid clinical exome sequencing technology in the diagnosis of critically ill pediatric patients with suspected genetic diseases

in Genetics of Common and Rare Diseases

Xuejun Ouyang
Dazhi Chi
Yu Zhang
Tian Yu
Qian Zhang
Lei Xu
Victor Wei Zhang
Bin Wang

Frontiers in Genetics

doi 10.3389/fgene.2025.1592212

436 views

Original Research

Published on 11 Apr 2025

Identification of cellular senescence-related genes as biomarkers for lupus nephritis based on bioinformatics

in Genetics of Common and Rare Diseases

Wei Chen
Xiaofang Wang
Guoshun Huang
Qin Sheng
Enchao Zhou

Frontiers in Genetics

doi 10.3389/fgene.2025.1551450

673 views

Original Research

Published on 09 Apr 2025

Genetic and clinical profile of high myopia patients with rhegmatogenous retinal detachment

in Genetics of Common and Rare Diseases

Lin Zhou
Farrukhjon Boboev
Hui Chen
Fanwen Jiang
Chun Zhang
Jing Xiao
Hui Jiang
Yongchuan Liao
Zhuping Xu

Frontiers in Genetics

doi 10.3389/fgene.2025.1485874

1,045 views

Original Research

Published on 09 Apr 2025

Identification of signature genes and relationship with immune cell infiltration in intervertebral disc degeneration

in Genetics of Common and Rare Diseases

Kun Mu
JingChao Geng
Yu Dong
Wei Guo

Frontiers in Genetics

doi 10.3389/fgene.2025.1551124

604 views

Case Report

Published on 07 Apr 2025

A novel DNM2 variant associated with centronuclear myopathy: a case report

in Genetics of Common and Rare Diseases

Martina Rimoldi
Daniele Velardo
Simona Zanotti
Michela Ripolone
Roberto Del Bo
Patrizia Ciscato
Laura Napoli
Stefania Corti
Giacomo Pietro Comi
Dario Ronchi

Frontiers in Genetics

doi 10.3389/fgene.2025.1559773

602 views

Original Research

Accepted on 02 Apr 2025

Identification of a Novel Missense Variant in the LMX1B Gene Associated with Nail-Patella Syndrome in a Chinese Family

in Genetics of Common and Rare Diseases

Qian Sun
Yaqiong Ren
Wen Zheng
Guanghao Su
Xiaodong Wang
Hongying Wang

Frontiers in Genetics

doi 10.3389/fgene.2025.1574076

247 views

Original Research

Published on 31 Mar 2025

Identification of a novel nonsense mutation and a recurrent missense mutation in UROS gene in a patient with congenital erythropoietic porphyria

in Genetics of Common and Rare Diseases

Ning Jia
Yusupu Yimin
Ming Li
Long Jiang
Yeqiang Liu

Frontiers in Genetics

doi 10.3389/fgene.2025.1486595

557 views

Original Research

Published on 28 Mar 2025

Arteriovenous cerebral high-flow shunts: genetic analysis of patients from a pediatric tertiary care center

in Genetics of Common and Rare Diseases

Ferruccio Romano
Patrizia De Marco
Giulia Amico
Marisa Mallamaci
Marco Pavanello
Gianluca Piatelli
Marcello Scala
Federico Zara
Francesca Faravelli
Mariasavina Severino

Frontiers in Genetics

doi 10.3389/fgene.2025.1430657

739 views

Original Research

Published on 27 Mar 2025

Etiology and clinical features of Han Chinese patients with Duane retraction syndrome

in Genetics of Common and Rare Diseases

Lijuan Huang
Baoying Chen
Chi Cai
Yuyu Wu
Zhimin Sun
Yan Xie
Ningdong Li

Frontiers in Genetics

doi 10.3389/fgene.2025.1500090

510 views

Original Research

Published on 25 Mar 2025

Novel variations in the PLOD1, COL1A1, COL5A2 and COL4A1 genes related to keratoconus

in Genetics of Common and Rare Diseases

Qinghong Lin
Xuejun Wang
Xiaoliao Peng
Tian Han
Ling Sun
Xiaoyu Zhang
Xingtao Zhou

Frontiers in Genetics

doi 10.3389/fgene.2025.1497915

730 views

Original Research

Published on 20 Mar 2025

Identified five variants in CFTR gene that alter RNA splicing by minigene assay

in Genetics of Common and Rare Diseases

Bingying Zhang
Yiyin Zhang
Yan Zhang
Xuyan Liu
Ran Zhang
Zhi Wang
Fengjiao Pan
Ning Xu
Leping Shao

Frontiers in Genetics

doi 10.3389/fgene.2025.1543623

896 views

Original Research

Published on 19 Mar 2025

Clinical genetic analysis of an adult polyglucosan body disease (APBD) family caused by the compound heterozygous variant of GBE1 p.R156C and deletion exon 3-7

in Genetics of Common and Rare Diseases

Juan Zhu
Hong-Ping Yu
Jing Zou
Yi-Wu Zhang
Xin-Qi Han
Zi-Yan Xu
Li Chen
Qian Chen
Mei-Zhu Gao
Li-Jun Xie

Frontiers in Genetics

doi 10.3389/fgene.2025.1514610

676 views