Hereditary Disorder | List of Frontiers open access articles

Case Report

Published on 11 Jan 2021

Case Report: Novel Arylsulfatase A (ARSA) Gene Mutations in a Patient With Adult-Onset Metachromatic Leukodystrophy Misdiagnosed as Multiple Sclerosis

in Multiple Sclerosis and Neuroimmunology

Lulu Xu
Meixiang Zhong
Yajuan Wang
Zhihong Wang
Jie Song
Jing Zhao
Hongyun Yu
Zhencui Yang
Wenjing Yan
Xueping Zheng

Frontiers in Neurology

doi 10.3389/fneur.2020.576881

6,284 views
9 citations

Review

Published on 18 Jul 2025

Biomarkers in spinal muscular atrophy

in Neurological Biomarkers

Liping Yan
Jinping Zhang
Jian Zheng
Hua Hao

Frontiers in Neurology

doi 10.3389/fneur.2025.1636992

3,560 views
2 citations

Case Report

Published on 08 Nov 2019

A Novel Nonsense Mutation (c.414G>A; p.Trp138*) in CLDN14 Causes Hearing Loss in Yemeni Families: A Case Report

in Genetics of Common and Rare Diseases

Walaa Kamal Eldin Mohamed
Mona Mahfood
Abdullah Al Mutery
Sallam Hasan Abdallah
Abdelaziz Tlili

Frontiers in Genetics

doi 10.3389/fgene.2019.01087

5,391 views
6 citations

Review

Published on 02 May 2024

Cardiopulmonary determinants of reduced exercise tolerance in Fabry disease

in Hypertension

Oriana De Marco
Jessica Gambardella
Antonio Bianco
Antonella Fiordelisi
Federica Andrea Cerasuolo
Antonietta Buonaiuto
Roberta Avvisato
Ivana Capuano
Maria Amicone
Teodolinda Di Risi

Frontiers in Cardiovascular Medicine

doi 10.3389/fcvm.2024.1396996

3,156 views
5 citations

Mini Review

Published on 15 Feb 2024

Brain function in classic galactosemia, a galactosemia network (GalNet) members review

in Genetics of Common and Rare Diseases

Bianca Panis
E. Naomi Vos
Ivo Barić
Annet M. Bosch
Martijn C. G. J. Brouwers
Alberto Burlina
David Cassiman
David J. Coman
María L. Couce
Anibh M. Das

Frontiers in Genetics

doi 10.3389/fgene.2024.1355962

12,516 views
12 citations

Review

Published on 26 Feb 2024

The interactions between ineffective erythropoiesis and ferroptosis in β-thalassemia

in Red Blood Cell Physiology

Siyang Lin
Yanping Zheng
Meihuan Chen
Liangpu Xu
Hailong Huang

Frontiers in Physiology

doi 10.3389/fphys.2024.1346173

7,923 views
14 citations

Case Report

Published on 03 Mar 2025

Atypical thyroid manifestation in Cowden disease: a case report and literature review

in Pediatric Endocrinology

Marion Garcia
Isabelle Oliver Petit
Camille Franchet
Olivier Abbo
Audrey Cartault
Frédérique Savagner

Frontiers in Pediatrics

doi 10.3389/fped.2025.1499664

2,490 views
2 citations

Original Research

Published on 06 Feb 2026

Identification and functional characterization of a novel pathogenic COL1A1 splicing variant in a Chinese family with osteogenesis imperfecta

in Genetics of Common and Rare Diseases

Hongjuan Nie
Yuanxiong Chen
Peifang Qin
Guiming Xie
Di Zhang
Yifan Sun
Yongjun Mo

Frontiers in Genetics

doi 10.3389/fgene.2026.1758799

905 views

Original Research

Published on 08 Sep 2025

Novel AVPR2 mutations in congenital nephrogenic diabetes insipidus: clinical characteristics and genetic analysis

in Pediatric Endocrinology

Kunjiao Xue
Jin Wu
Juanjuan Lyu
Xiaomei Sun
Ying Liu
Chuanjie Yuan

Frontiers in Pediatrics

doi 10.3389/fped.2025.1623342

2,493 views

Case Report

Published on 18 Jun 2025

Case Report: A first case of desmin-related myofibrillar myopathy due to inheritance from a confirmed mosaic asymptomatic carrier

in Genetics of Common and Rare Diseases

Jelle Vlaeminck
Sophie Uyttebroeck
Elke De Schutter
Ann Cordenier
Shauni Wellekens
Erwin Ströker
Kelly De Rooms
Christine Helsen
Frederik J. Hes
Philippe Giron

Frontiers in Genetics

doi 10.3389/fgene.2025.1597851

2,454 views
1 citation

Original Research

Published on 25 Apr 2022

Nociception in the Glycine Receptor Deficient Mutant Mouse Spastic

in Pain Mechanisms and Modulators

Teja Wolfgang Groemer
Antoine Triller
Hanns Ulrich Zeilhofer
Kristina Becker
Volker Eulenburg
Cord Michael Becker

Frontiers in Molecular Neuroscience

doi 10.3389/fnmol.2022.832490

3,877 views
6 citations

Brief Research Report

Published on 22 Jun 2022

Distinct Contribution of Global and Regional Angiotensin II Type 1a Receptor Inactivation to Amelioration of Aortopathy in Tgfbr1M318R/+ Mice

in Cardiovascular Therapeutics

Emily E. Bramel
Rustam Bagirzadeh
Muzna Saqib
Tyler J. Creamer
Wendy A. Espinoza Camejo
LaToya Ann Roker
Jennifer Pardo Habashi
Harry C. Dietz
Elena Gallo MacFarlane

Frontiers in Cardiovascular Medicine

doi 10.3389/fcvm.2022.936142

3,854 views
13 citations

Case Report

Published on 18 Dec 2025

Case Report: Minigene assays reveal a novel DNAAF6 intronic variant as the key etiology for primary ciliary dyskinesia

in Human and Medical Genomics

Yupeng Long
Huixian Li
Haoyue Yu
Qian Yi
Xiong Meng
Xi Wang
Qinqin Ren
Dongyan Ding
Haidong Li
Fenglan Zhang

Frontiers in Genetics

doi 10.3389/fgene.2025.1692658

1,671 views

Case Report

Published on 02 Sep 2025

Case report and literature review of transthyretin amyloidosis with p.Ser43Asn mutation presenting in China

in General Cardiovascular Medicine

Kebinuer Abulikemu
Lei Hong
Qinghua Zhong

Frontiers in Cardiovascular Medicine

doi 10.3389/fcvm.2025.1625485

1,534 views

Community Case Study

Published on 24 Oct 2025

The impact of a pandemic as an example of a stressful event, on anxiety and related emotional disorders of NF1 patients compared to healthy children

in Anxiety and Stress Disorders

Rony Cohen
Sharon Aharoni
Ayelet Halevy
Jacob Genizi

Frontiers in Psychiatry

doi 10.3389/fpsyt.2025.1581465

963 views

Case Report

Published on 17 Dec 2024

Case report: Exploring Lynch Syndrome through genomic analysis in a mestizo Ecuadorian patient and his brother

in Gastroenterology

Patricia Guevara-Ramírez
Viviana A. Ruiz-Pozo
Santiago Cadena-Ullauri
Elius Paz-Cruz
Rafael Tamayo-Trujillo
Aníbal Gaviria
Francisco Cevallos
Ana Karina Zambrano

Frontiers in Medicine

doi 10.3389/fmed.2024.1498290

3,966 views

Articles

Case Report: Novel Arylsulfatase A (ARSA) Gene Mutations in a Patient With Adult-Onset Metachromatic Leukodystrophy Misdiagnosed as Multiple Sclerosis

Biomarkers in spinal muscular atrophy

A Novel Nonsense Mutation (c.414G>A; p.Trp138*) in CLDN14 Causes Hearing Loss in Yemeni Families: A Case Report

Cardiopulmonary determinants of reduced exercise tolerance in Fabry disease

Brain function in classic galactosemia, a galactosemia network (GalNet) members review

The interactions between ineffective erythropoiesis and ferroptosis in β-thalassemia

Atypical thyroid manifestation in Cowden disease: a case report and literature review

Identification and functional characterization of a novel pathogenic COL1A1 splicing variant in a Chinese family with osteogenesis imperfecta

Novel AVPR2 mutations in congenital nephrogenic diabetes insipidus: clinical characteristics and genetic analysis

Case Report: A first case of desmin-related myofibrillar myopathy due to inheritance from a confirmed mosaic asymptomatic carrier

Nociception in the Glycine Receptor Deficient Mutant Mouse Spastic

Distinct Contribution of Global and Regional Angiotensin II Type 1a Receptor Inactivation to Amelioration of Aortopathy in Tgfbr1M318R/+ Mice

Case Report: Minigene assays reveal a novel DNAAF6 intronic variant as the key etiology for primary ciliary dyskinesia

Case report and literature review of transthyretin amyloidosis with p.Ser43Asn mutation presenting in China

The impact of a pandemic as an example of a stressful event, on anxiety and related emotional disorders of NF1 patients compared to healthy children

Case report: Exploring Lynch Syndrome through genomic analysis in a mestizo Ecuadorian patient and his brother