Frontiers in Genetics | Genetics of Common and Rare Diseases

Case Report

Published on 02 Sep 2024

Case report: Second report of neuromuscular syndrome caused by biallelic variants in ASCC3

in Genetics of Common and Rare Diseases

Wang Li
Zhongliang Li
Junhui Fu
Kaili Xu
Daoqi Mei
Xiaona Wang
Taisong Li
Xilong Du

Frontiers in Genetics

doi 10.3389/fgene.2024.1382275

1,669 views

Correction

Published on 30 Aug 2024

Corrigendum: Evidence for a genetic contribution to the ossification of spinal ligaments in ossification of posterior longitudinal ligament and diffuse idiopathic skeletal hyperostosis: a narrative review

in Genetics of Common and Rare Diseases

Ana Rita Couto
Bruna Parreira
Deborah M. Power
Luís Pinheiro
João Madruga Dias
Irina Novofastovski
Iris Eshed
Piercarlo Sarzi-Puttini
Nicola Pappone
Fabiola Atzeni

Frontiers in Genetics

doi 10.3389/fgene.2024.1477788

1,046 views

Original Research

Published on 30 Aug 2024

Exome sequence analysis identifies a homozygous, pathogenic, frameshift variant in the MAN2B1 gene underlying clinical variant of α-mannosidosis

in Genetics of Common and Rare Diseases

Jamil Amjad Hashmi
Muhammad Latif
Reham M. Balahmar
Muhammad Zeeshan Ali
Fatima Alfadhli
Muzammil Ahmad Khan
Sulman Basit

Frontiers in Genetics

doi 10.3389/fgene.2024.1421943

1,926 views

Original Research

Published on 20 Aug 2024

Identification of biallelic mutations in MCM3AP and comprehensive literature analysis

in Genetics of Common and Rare Diseases

Chan Liu
Qingfeng Xie
Quan Hu
Bingwu Xiang
Kaiyi Zhao
Xiang Chen
Feixia Zheng

Frontiers in Genetics

doi 10.3389/fgene.2024.1405644

1,251 views

Original Research

Published on 20 Aug 2024

Severe mitochondrial encephalomyopathy caused by de novo variants in OPA1 gene

in Genetics of Common and Rare Diseases

Michela Di Nottia
Teresa Rizza
Enrico Baruffini
Claudia Nesti
Alessandra Torraco
Daria Diodato
Diego Martinelli
Flavio Dal Canto
Alexandru Ionut Gilea
Martina Zoccola

Frontiers in Genetics

doi 10.3389/fgene.2024.1437959

2,247 views

Systematic Review

Published on 20 Aug 2024

Association between vitamin D receptor gene polymorphisms and susceptibility to tuberculosis: a systematic review and meta-analysis

in Genetics of Common and Rare Diseases

Rongshan Tao
Shujuan Xiao
Lianping Wang
Chunjie Hu
Huiqin Suo
Ruiyu Long
Hangyu Liu
Wei Luo
Feng Hong
Jingming Zhao

Frontiers in Genetics

doi 10.3389/fgene.2024.1382957

1,907 views
3 citations

Case Report

Published on 16 Aug 2024

Clinical phenotype of the 16p.13.11 microdeletion: a case report with a mini review of the literature

in Genetics of Common and Rare Diseases

Roberto Palumbi
Emanuela Ponzi
Stefania Micella
Mara Pascali
Roberta Bucci
Mattia Gentile
Lucia Margari
Marta Simone

Frontiers in Genetics

doi 10.3389/fgene.2024.1429185

5,174 views
1 citation

Case Report

Published on 16 Aug 2024

HNF1β, LHX1, and GGNBP2 deletion contributed to kidney and reproductive dysfunction in 17q12 deletion syndrome: evidence from a case report

in Genetics of Common and Rare Diseases

Chun-Yu Song
Jing Yang
Sheng Jiang
Guo-Li Du

Frontiers in Genetics

doi 10.3389/fgene.2024.1391804

1,581 views

Original Research

Published on 16 Aug 2024

Novel WFS1 variants are associated with different diabetes phenotypes

in Genetics of Common and Rare Diseases

Lei Wu
Juan Zhang
Danjie Li
Zhongyun Zhang
Qicheng Ni
Rulai Han
Lei Ye
Yifei Zhang
Jie Hong
Weiqing Wang

Frontiers in Genetics

doi 10.3389/fgene.2024.1433060

2,285 views

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

1,983 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

2,829 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

1,321 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

1,788 views

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

2,462 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

1,941 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

1,855 views
1 citation