Frontiers in Genetics | Genetics of Common and Rare Diseases

Case Report

Published on 14 Aug 2024

Case report: First diagnosis of Fabry disease in North Macedonia in a patient presenting with kidney failure on hemodialysis

in Genetics of Common and Rare Diseases

Nikola Gjorgjievski
Vlatko Karanfilovski
Todor Arsov
Pavlina Dzekova Vidimliski
Galisna Severeova Andreevska
Gjulshen Selim
Petar Dejanov
Vasilena Jordanova
Ivelina Marinova
Emil Paskalev

Frontiers in Genetics

doi 10.3389/fgene.2024.1415906

1,883 views

Original Research

Published on 14 Aug 2024

Genomic insights into prenatal diagnosis of congenital heart defects: value of CNV-seq and WES in clinical practice

in Genetics of Common and Rare Diseases

Shiyu Sun
Yizhen Ji
Di Shao
Yasong Xu
Xiaomei Yang
Li Sun
Nan Li
Hui Huang
Qichang Wu

Frontiers in Genetics

doi 10.3389/fgene.2024.1448383

2,545 views
3 citations

Case Report

Published on 13 Aug 2024

Cases report: Mosaic structural variants of the EXT1 gene in previously genetically unconfirmed multiple osteochondromas

in Genetics of Common and Rare Diseases

Artem Borovikov
Andrey Marakhonov
Aysylu Murtazina
Kseniya Davydenko
Alexandra Filatova
Nailya Galeeva
Varvara Kadnikova
Natalya Ogorodova
Daria Gorodilova
Ilya Kanivets

Frontiers in Genetics

doi 10.3389/fgene.2024.1435493

1,247 views
1 citation

Case Report

Published on 13 Aug 2024

Asymmetric scapuloperoneal phenotype of MATR3-related distal myopathy: case series

in Genetics of Common and Rare Diseases

Aysylu Murtazina
Dmitrii Subbotin
Anna Kuchina
Olga Gilvanova
Daniil Degterev
Olga Shchagina
Tatiana Cherevatova
Maria Bulakh
Darya Sherstyukova
Oksana Ryzhkova

Frontiers in Genetics

doi 10.3389/fgene.2024.1414928

1,649 views

Case Report

Published on 12 Aug 2024

Fahr’s syndrome as the initial imaging characteristics of MELAS syndrome with a possible seizure activity and cardiac arrest: a case report

in Genetics of Common and Rare Diseases

Yan Zheng
Haohao Wu
Meng Zhang
Baogang Huang
Junsu Yang
Chuan Liu
Hanmin Wang
Kang Du

Frontiers in Genetics

doi 10.3389/fgene.2024.1393158

1,740 views
1 citation

Brief Research Report

Published on 12 Aug 2024

Four novel variants identified in the ACADVL gene causing very-long-chain acyl-coenzyme A dehydrogenase deficiency in four unrelated Chinese families

in Genetics of Common and Rare Diseases

Lulu Li
Yue Tang
Jinqi Zhao
Lifei Gong
Nan Yang
Shunan Wang
Haihe Yang
Yuanyuan Kong

Frontiers in Genetics

doi 10.3389/fgene.2024.1433160

2,222 views

Case Report

Published on 12 Aug 2024

Case report: A novel mutation of the CAPN3 gene in a Chinese family with limb-girdle muscular dystrophy type 2A

in Genetics of Common and Rare Diseases

Wanjun Feng
Yanyan Cao
Ruolin Ren
Xiaohui Yang
Chunyan Cao
Hongwei Jiang
Ganqin Du

Frontiers in Genetics

doi 10.3389/fgene.2024.1410727

1,744 views

Review

Published on 12 Aug 2024

Acute intermittent porphyria: a disease with low penetrance and high heterogeneity

in Genetics of Common and Rare Diseases

Jia-Jia Lei
Shuang Li
Bai-Xue Dong
Jing Yang
Yi Ren

Frontiers in Genetics

doi 10.3389/fgene.2024.1374965

2,799 views
1 citation

Original Research

Published on 09 Aug 2024

Analyzing three pedigrees in X-linked Alport syndrome with the presentation of nephrotic syndrome

in Genetics of Common and Rare Diseases

Jian-Hui Zhang
Jie Liu
Dan-Dan Ruan
Qian Chen
Jie Yang
Min Wu
Hong-Ping Yu
Li-Sheng Liao
Xiao-Ling Zheng
Jie-Wei Luo

Frontiers in Genetics

doi 10.3389/fgene.2024.1419154

1,528 views

Case Report

Published on 09 Aug 2024

Case Report: Whole exome sequencing identifies compound heterozygous variants in the TRAPPC9 gene in a child with developmental delay

in Genetics of Common and Rare Diseases

Bingxuan Yu
Jing Chen
Shuo Yang
He Wang
Yuanyuan Xiao
Shanling Liu

Frontiers in Genetics

doi 10.3389/fgene.2024.1415194

1,380 views

Original Research

Published on 08 Aug 2024

Using preimplantation genetic testing for monogenic disease for preventing citrullinemia type 1 transmission

in Genetics of Common and Rare Diseases

Zubo Wu
Tao Liang
Yi Liu
Xiaofang Ding
Defeng Shu

Frontiers in Genetics

doi 10.3389/fgene.2024.1389461

1,192 views

Mini Review

Published on 08 Aug 2024

The role of primary cilia in congenital heart defect-associated neurological impairments

in Genetics of Common and Rare Diseases

Nemanja Sarić
Nobuyuki Ishibashi

Frontiers in Genetics

doi 10.3389/fgene.2024.1460228

1,714 views

Original Research

Published on 06 Aug 2024

Genetic testing and human leukocyte antigen in patients with hypertrophic cardiomyopathy and connective tissue diseases

in Genetics of Common and Rare Diseases

Daigo Hiraya
Nobuyuki Murakoshi
Miyako Igarashi
DongZhu Xu
Tomoko Ishizu

Frontiers in Genetics

doi 10.3389/fgene.2024.1432670

1,449 views

Review

Published on 02 Aug 2024

Molecular mechanisms and genetic factors contributing to the developmental dysplasia of the hip

in Genetics of Common and Rare Diseases

Xiaoming Zhao
Shuai Liu
Zhonghua Yang
Yong Li

Frontiers in Genetics

doi 10.3389/fgene.2024.1413500

2,845 views
2 citations

Case Report

Published on 02 Aug 2024

Case report: Comprehensive exploration of a novel PFKM mutation in glycogen storage disease Type VII

in Genetics of Common and Rare Diseases

Ying Chen
Xinyu Wang
Na Ji
Qi Fang
Xin Chang
Meirong Liu

Frontiers in Genetics

doi 10.3389/fgene.2024.1422908

1,731 views

Original Research

Published on 01 Aug 2024

Authentication and validation of key genes in the treatment of atopic dermatitis with Runfuzhiyang powder: combined RNA-seq, bioinformatics analysis, and experimental research

in Genetics of Common and Rare Diseases

Yan Lin
Guangyi Xiong
Xiansong Xia
Zhiping Yin
Xuhui Zou
Xu Zhang
Chenghao Zhang
Jianzhou Ye

Frontiers in Genetics

doi 10.3389/fgene.2024.1335093

2,176 views