Familial Case | List of Frontiers open access articles

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

3,137 views

Original Research

Published on 29 Sep 2022

Novel compound heterozygous CCDC40 mutations in a familial case of primary ciliary dyskinesia

in Pediatric Cardiology

Liqing Zhao
Suqiu Huang
Wei Wei
Bingyao Zhang
Wenxiang Shi
Yongzhou Liang
Rang Xu
Yurong Wu

Frontiers in Pediatrics

doi 10.3389/fped.2022.996332

5,288 views
2 citations

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

4,342 views

Case Report

Published on 28 Aug 2019

Biallelic Missense Mutation in the ECEL1 Underlies Distal Arthrogryposis Type 5 (DA5D)

in Genetics of Common and Rare Diseases

Muhammad Umair
Amjad Khan
Amir Hayat
Safdar Abbas
Abdulaziz Asiri
Muhammad Younus
Wajid Amin
Shoaib Nawaz
Shazia Khan
Erum Malik

Frontiers in Pediatrics

doi 10.3389/fped.2019.00343

6,126 views
18 citations

Original Research

Published on 18 Aug 2025

Familial Carney complex with embolic ischemic stroke: a case report and literature review

in Cardio-Oncology

Tingting Luo
Mengxing Yin
Lijin Li
Mengjiao Sun
Zhen Li
Pengge Li
Mengmeng Liu
Xinxin Sun
Zhanyi Wu
Yifan Liu

Frontiers in Oncology

doi 10.3389/fonc.2025.1590877

1,559 views

Brief Research Report

Published on 17 Jan 2023

Identification of a dysfunctional exon-skipping splice variant in GLUT9/SLC2A9 causal for renal hypouricemia type 2

in Genetics of Common and Rare Diseases

Yu Toyoda
Sung Kweon Cho
Velibor Tasic
Kateřina Pavelcová
Jana Bohatá
Hiroshi Suzuki
Victor A. David
Jaeho Yoon
Anna Pallaiova
Jana Šaligová

Frontiers in Genetics

doi 10.3389/fgene.2022.1048330

6,689 views
9 citations

Case Report

Published on 05 Feb 2020

Recurrent NEDD4L Variant in Periventricular Nodular Heterotopia, Polymicrogyria and Syndactyly

in Genetics of Common and Rare Diseases

Katrien Stouffs
Patrick Verloo
Stefanie Brock
Luc Régal
Diane Beysen
Berten Ceulemans
Anna C. Jansen
Marije E.C. Meuwissen

Frontiers in Genetics

doi 10.3389/fgene.2020.00026

6,553 views
19 citations

Brief Research Report

Published on 23 Feb 2026

Late diagnosis and effective everolimus treatment in a familial case of tuberous sclerosis complex: a case report

in Applied Genetic Epidemiology

Fang Dai
Yulian Duan
Bao-an Di
Qiang Feng
Jing Cui
Tao Lv

Frontiers in Genetics

doi 10.3389/fgene.2026.1772908

111 views

Case Report

Published on 23 Nov 2023

Case report: Familial case with autism spectrum and bipolar disorder showing a 20q11.21 microduplication including TM9SF4

in Autism

Marly Simoncini
Miriam Violi
Angelo Valetto
Veronica Bertini
Francy Cruz-Sanabria
Leonardo Massoni
Liliana Dell’Osso
Claudia Carmassi

Frontiers in Psychiatry

doi 10.3389/fpsyt.2023.1240663

3,568 views
1 citation

Case Report

Published on 07 Apr 2020

Blue Rubber Bleb Nevus Syndrome With Multiple Cavernoma-Like Lesions on MRI: A Familial Case Report and Literature Review

in Stroke

García Anwár
Paredes-Aragón Elma
Jorge-de Saráchaga Adib
Meyer-Nava Ilse
Gutiérrez-Romero Alonso
Salinas Lara Ciltlaltepelt
Novelo Soto Alma
Vega Memije Maria Elisa
Arauz Antonio

Frontiers in Neurology

doi 10.3389/fneur.2020.00176

11,033 views
6 citations

Case Report

Published on 09 Dec 2025

Case Report: Post-LASIK exacerbation of granular corneal dystrophy type 2: a familial case with TGFBI mutation

in Ophthalmology

Longhao Kuang
Xuanjun Zhang
Yufang Wang
Qing Zhan
Jingjing Su
Baotao Lin
Ping Guo

Frontiers in Medicine

doi 10.3389/fmed.2025.1721130

960 views

Case Report

Published on 24 Jun 2025

A familial case of Birt–Hogg–Dubé syndrome complicated with lung cancer: a case report and literature review

in Pulmonary Medicine

Jingjing Feng
Yunxia Yu
Yi Liu
Yi Ding
Junyi Mu
Rong Jiang
Lokesh Sharma
Zhijun Jie

Frontiers in Medicine

doi 10.3389/fmed.2025.1581786

2,130 views
2 citations

Case Report

Published on 19 May 2025

Case Report: Hereditary spastic paraplegia associated with monoallelic variant in the motor domain of KIF1A

in Motor Neuroscience

Kathryn Sine
David Brodie-Mends
Wafae Chouhani
Lauren Massingham
Saud Alhusaini

Frontiers in Human Neuroscience

doi 10.3389/fnhum.2025.1568511

2,448 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

2,276 views

Case Report

Published on 31 Oct 2025

“Case report”: Whole-exome sequencing reveals compound heterozygous variants in the EIF2B5 gene in a familial case of vanishing white matter

in Genetics of Common and Rare Diseases

Sofía Savy
Francisco A. Montes
Carola L. Grosso
Laura E. Laróvere
Silene M. Silvera-Ruiz
Gerardo H. Carro
Guillermo Guelbert
Adriana Becerra
David Morales
Juan P. Nicola

Frontiers in Genetics

doi 10.3389/fgene.2025.1688885

1,885 views

Brief Research Report

Published on 30 Nov 2023

Prominent muscle involvement in a familial form of mitochondrial disease due to a COA8 variant

in Genetics of Common and Rare Diseases

Martina Rimoldi
Francesca Magri
Sara Antognozzi
Michela Ripolone
Sabrina Salani
Daniela Piga
Letizia Bertolasi
Simona Zanotti
Patrizia Ciscato
Francesco Fortunato

Frontiers in Genetics

doi 10.3389/fgene.2023.1278572

3,327 views
7 citations

Articles

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

Novel compound heterozygous CCDC40 mutations in a familial case of primary ciliary dyskinesia

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

Biallelic Missense Mutation in the ECEL1 Underlies Distal Arthrogryposis Type 5 (DA5D)

Familial Carney complex with embolic ischemic stroke: a case report and literature review

Identification of a dysfunctional exon-skipping splice variant in GLUT9/SLC2A9 causal for renal hypouricemia type 2

Recurrent NEDD4L Variant in Periventricular Nodular Heterotopia, Polymicrogyria and Syndactyly

Late diagnosis and effective everolimus treatment in a familial case of tuberous sclerosis complex: a case report

Case report: Familial case with autism spectrum and bipolar disorder showing a 20q11.21 microduplication including TM9SF4

Blue Rubber Bleb Nevus Syndrome With Multiple Cavernoma-Like Lesions on MRI: A Familial Case Report and Literature Review

Case Report: Post-LASIK exacerbation of granular corneal dystrophy type 2: a familial case with TGFBI mutation

A familial case of Birt–Hogg–Dubé syndrome complicated with lung cancer: a case report and literature review

Case Report: Hereditary spastic paraplegia associated with monoallelic variant in the motor domain of KIF1A

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

“Case report”: Whole-exome sequencing reveals compound heterozygous variants in the EIF2B5 gene in a familial case of vanishing white matter

Prominent muscle involvement in a familial form of mitochondrial disease due to a COA8 variant