Frontiers in Genetics | Genetics of Common and Rare Diseases

Case Report

Published on 28 Jan 2025

Case report: Discovery of novel CTNNB1 mutations and comparison of clinical characteristics in two patients with NEDSDV

in Genetics of Common and Rare Diseases

Eojin Lee
Ja Young Choi
Shin-Seung Yang

Frontiers in Genetics

doi 10.3389/fgene.2025.1502756

1,164 views

Original Research

Published on 27 Jan 2025

The role of SPINK5 mutation distribution in phenotypes of Netherton syndrome

in Genetics of Common and Rare Diseases

Min Xu
Yujie Shi
Li Lin
Liang Wang
Xianzhong Zhu
Jinglin Xiong
Jiawen Yin
Qing Qi
Wenlin Yang

Frontiers in Genetics

doi 10.3389/fgene.2025.1475054

1,144 views

Original Research

Published on 21 Jan 2025

Diagnostic efficiency of exome-based sequencing in pediatric patients with epilepsy

in Genetics of Common and Rare Diseases

Huafang Zou
Qian Zhang
Jianxiang Liao
Dongfang Zou
Zhanqi Hu
Bing Li
Li Chen
Jialun Wen
Xia Zhao
Victor Wei Zhang

Frontiers in Genetics

doi 10.3389/fgene.2024.1496411

1,735 views

Original Research

Published on 20 Jan 2025

Mutation in the COL2A1 gene is associated with acetabular dysplasia

in Genetics of Common and Rare Diseases

Miaomiao Xin
Xin Guan
Jiangfei Yang
Yi Li
Zhentao Man
Hongsheng Sun
Min Fu

Frontiers in Genetics

doi 10.3389/fgene.2024.1521412

1,606 views

Case Report

Published on 20 Jan 2025

Treatment of hypotrichosis simplex of the scalp with the combination of botanic extracts and minoxidil: a case report

in Genetics of Common and Rare Diseases

Mingyue Zhuang
Yonglong Xu
Shiyi Zhong
Ziyuan Tian
Qingwu Liu
Dingquan Yang

Frontiers in Genetics

doi 10.3389/fgene.2024.1491870

1,216 views

Brief Research Report

Published on 17 Jan 2025

Updates on the molecular spectrum of MEFV variants in lebanese patients with Familial Mediterranean Fever

in Genetics of Common and Rare Diseases

Rudy Feghali
José-Noel Ibrahim
Nabiha Salem
Romy Moussallem
Ghina Hijazi
Charbel Attieh
Tony Yammine
Alain Chebly

Frontiers in Genetics

doi 10.3389/fgene.2024.1506656

1,890 views
2 citations

Original Research

Published on 15 Jan 2025

Increased cardiac macrophages in Sorbs2-deficient hearts: revealing a potential role for macrophage in responding to embryonic myocardial abnormalities

in Genetics of Common and Rare Diseases

Beibei Hu
Xiangyang Liu
Shanshan Xiong
Qin Gong
Junjie Yang
Hongjun Shi
Min Zhang
Fei Liang
Zhen Zhang

Frontiers in Genetics

doi 10.3389/fgene.2024.1525931

1,554 views

Case Report

Published on 15 Jan 2025

Case Report: Novel ADA2 variants cause atypical adenosine deaminase 2 deficiency

in Genetics of Common and Rare Diseases

Haishao Yu
Shuangzhu Lin
Lin Li
Jiayi Li
Qiandui Chen
Yuheng Wu
Yangfan Qi
Wanqi Wang
Xingzhi Chang
Jie Zhang

Frontiers in Genetics

doi 10.3389/fgene.2024.1478581

1,326 views

Clinical Trial

Published on 13 Jan 2025

Genetic variation in patent foramen ovale: a case-control genome-wide association study

in Genetics of Common and Rare Diseases

Bosi Dong
Yajiao Li
Fandi Ai
Jia Geng
Ting Tang
Wan Peng
Yusha Tang
Hui Wang
Zixuan Tian
Fengxiao Bu

Frontiers in Genetics

doi 10.3389/fgene.2024.1523304

1,459 views
1 citation

Original Research

Published on 08 Jan 2025

Detection of inversion with breakpoints in ARSB causing MPS VI by whole-genome sequencing: lessons learned and best practices

in Genetics of Common and Rare Diseases

Yufeng Huang
Wenyue Deng
Hui Huang
Xiankai Zhang
Xiaohong Chen
Jian Ye
Sukun Luo
Ting Yu
Hui Yao
Hao Du

Frontiers in Genetics

doi 10.3389/fgene.2024.1452498

979 views

Case Report

Published on 07 Jan 2025

Case Report: Craniofacial deafness hand syndrome with unusual cardiovascular symptoms and lack of holistic care

in Genetics of Common and Rare Diseases

Samantha Saenz Hinojosa
Carlos Reyes-Silva
Kazuyoshi Hosomichi
Vanessa I. Romero

Frontiers in Genetics

doi 10.3389/fgene.2024.1354632

990 views

Original Research

Published on 06 Jan 2025

An investigation of a hemophilia A female with heterozygous intron 22 inversion and skewed X chromosome inactivation

in Genetics of Common and Rare Diseases

Xiaoyan Tan
Yi Yang
Xia Wu
Jing Zhu
Teng Wang
Huihui Jiang
Shu Chen
Shifeng Lou

Frontiers in Genetics

doi 10.3389/fgene.2024.1500167

1,268 views

Review

Published on 06 Jan 2025

Marfan syndrome: insights from animal models

in Genetics of Common and Rare Diseases

Yuanyuan Jiang
Ping Jia
Xiaoying Feng
Dingding Zhang

Frontiers in Genetics

doi 10.3389/fgene.2024.1463318

2,858 views

Case Report

Published on 03 Jan 2025

Identification of a novel frameshift variation in ANKRD11: a case report of KBG syndrome

in Genetics of Common and Rare Diseases

Qing Shao
Qiang Jiang
Yuqi Luo
Yimei Meng
Guoyu Tian
Xiao Yin

Frontiers in Genetics

doi 10.3389/fgene.2024.1439905

4,823 views

Case Report

Published on 23 Dec 2024

Case Report and literature review: Delayed diagnosis of ARCL1B due to a newly reported homozygous mutation c.464A>C p. (Tyr155Ser) in the EFEMP2 gene

in Genetics of Common and Rare Diseases

Lixue Ouyang
Fan Yang
Hongyu Duan
Chuan Wang

Frontiers in Genetics

doi 10.3389/fgene.2024.1453195

1,413 views

Original Research

Published on 18 Dec 2024

Identification of hub programmed cell death-related genes and immune infiltration in Crohn’s disease using bioinformatics

in Genetics of Common and Rare Diseases

Biyao Wang
Hailing Liu
Qin Guo
Xiang Gao
Kang Chao
Qingfan Yang

Frontiers in Genetics

doi 10.3389/fgene.2024.1425062

1,406 views