Skeletal Anomalies | List of Frontiers open access articles

Original Research

Published on 31 Mar 2022

A de Novo ZMIZ1 Pathogenic Variant for Neurodevelopmental Disorder With Dysmorphic Facies and Distal Skeletal Anomalies

in Neurogenomics

Guanting Lu
Liya Ma
Pei Xu
Binqiang Xian
Lianying Wu
Jianying Ding
Xiaoyan He
Huiyun Xia
Wuwu Ding
Zhirong Yang

Frontiers in Genetics

doi 10.3389/fgene.2022.840577

7,272 views
22 citations

Original Research

Published on 26 May 2021

Renal and Skeletal Anomalies in a Cohort of Individuals With Clinically Presumed Hereditary Nephropathy Analyzed by Molecular Genetic Testing

in Human and Medical Genomics

Michaela Stippel
Korbinian M. Riedhammer
Bärbel Lange-Sperandio
Michaela Geßner
Matthias C. Braunisch
Roman Günthner
Martin Bald
Miriam Schmidts
Peter Strotmann
Velibor Tasic

Frontiers in Genetics

doi 10.3389/fgene.2021.642849

5,054 views
4 citations

Mini Review

Published on 20 May 2021

From Disease Description and Gene Discovery to Functional Cell Pathway: A Decade-Long Journey for TMCO1

in Human and Medical Genomics

Helen Batchelor-Regan
Baozhong Xin
Aimin Zhou
Heng Wang

Frontiers in Genetics

doi 10.3389/fgene.2021.652400

5,832 views
7 citations

Case Report

Published on 04 Mar 2024

Combined surgery and sclerotherapy for 13 years: a case report of a patient with CLOVES

in Pediatric Hematology and Hematological Malignancies

Shiqi Wang
Siming Yuan

Frontiers in Pediatrics

doi 10.3389/fped.2024.1336358

2,385 views
1 citation

Original Research

Published on 29 Apr 2016

Toxic Effects of Zinc Chloride on the Bone Development in Danio rerio (Hamilton, 1822)

in Aquatic Physiology

Antonio Salvaggio
Fabio Marino
Marco Albano
Roberta Pecoraro
Giuseppina Camiolo
Daniele Tibullo
Vincenzo Bramanti
Bianca M. Lombardo
Salvatore Saccone
Veronica Mazzei

Frontiers in Physiology

doi 10.3389/fphys.2016.00153

10,165 views
59 citations

Mini Review

Published on 03 Sep 2024

Targeted therapies for vascular malformations

in Hematology

Gavin Kane
Israel Fernandez-Pineda

Frontiers in Medicine

doi 10.3389/fmed.2024.1446046

5,009 views
3 citations

Original Research

Published on 14 Sep 2017

Postnatal Craniofacial Skeletal Development of Female C57BL/6NCrl Mice

in Craniofacial Biology and Dental Research

Xiaoxi Wei
Neil Thomas
Nan E. Hatch
Min Hu
Fei Liu

Frontiers in Physiology

doi 10.3389/fphys.2017.00697

11,382 views
58 citations

Case Report

Published on 04 Jan 2023

The first case report of CODAS syndrome in Chinese population caused by two LONP1 pathogenic mutations

in Genetics of Common and Rare Diseases

Yi Tang
Yu-Xing Liu
Yue Sheng
Liang-Liang Fan
Ai-Qian Zhang
Zhao-Fen Zheng

Frontiers in Genetics

doi 10.3389/fgene.2022.1031856

3,863 views
5 citations

Case Report

Published on 26 Aug 2022

Case report: A study on the de novo KMT2D variant of Kabuki syndrome with Goodpasture’s syndrome by whole exome sequencing

in Pediatric Rheumatology

Shuolin Li
Jing Liu
Yuan Yuan
Aizhen Lu
Fang Liu
Li Sun
Quanli Shen
Libo Wang

Frontiers in Pediatrics

doi 10.3389/fped.2022.933693

4,771 views
5 citations

Case Report

Published on 04 Oct 2019

Expanding the Clinical Spectrum of LONP1-Related Mitochondrial Cytopathy

in Neuromuscular Disorders and Peripheral Neuropathies

Fady Hannah-Shmouni
Lauren MacNeil
Lauren Brady
Mats I. Nilsson
Mark Tarnopolsky

Frontiers in Neurology

doi 10.3389/fneur.2019.00981

5,994 views
15 citations

Case Report

Published on 04 Jan 2024

Case Report: Stüve–Wiedemann syndrome—a rare cause of persistent pulmonary hypertension of the newborn

in Neonatology

Jessica Jin
Paula Rothämel
Johanna Büchel
Birgit Kammer
Theresa Brunet
Joseph Pattathu
Andreas W. Flemmer
Claudia Nussbaum
Sebastian Schroepf

Frontiers in Pediatrics

doi 10.3389/fped.2023.1329404

3,081 views
4 citations

Mini Review

Published on 05 Nov 2021

Comparing a Novel Malformation Syndrome Caused by Pathogenic Variants in FBRSL1 to AUTS2 Syndrome

in Morphogenesis and Patterning

Silke Pauli
Hanna Berger
Roser Ufartes
Annette Borchers

Frontiers in Cell and Developmental Biology

doi 10.3389/fcell.2021.779009

6,076 views
10 citations

Original Research

Published on 24 Nov 2025

Application of trio-based whole-exome sequencing in fetal ultrasound anomalies: a single-center retrospective study of 454 cases

in Genetics of Common and Rare Diseases

Dongyi Yu
Dairong Feng
Jiangbo Qu
Lei Nie
Qian Liu
Lu Gao
Wenzhen An
Na Liu
Yuying Fang

Frontiers in Genetics

doi 10.3389/fgene.2025.1662801

1,474 views

Correction

Published on 20 Mar 2020

Corrigendum: Myotonic Myopathy With Secondary Joint and Skeletal Anomalies From the c.2386C>G, p.L796V Mutation in SCN4A

in Neuromuscular Disorders and Peripheral Neuropathies

Nathaniel Elia
Trystan Nault
Hugh J. McMillan
Gail E. Graham
Lijia Huang
Stephen C. Cannon

Frontiers in Neurology

doi 10.3389/fneur.2020.00181

2,280 views
4 citations

Original Research

Published on 13 Feb 2020

Myotonic Myopathy With Secondary Joint and Skeletal Anomalies From the c.2386C>G, p.L796V Mutation in SCN4A

in Neuromuscular Disorders and Peripheral Neuropathies

Nathaniel Elia
Trystan Nault
Hugh J. McMillan
Gail E. Graham
Lijia Huang
Stephen C. Cannon

Frontiers in Neurology

doi 10.3389/fneur.2020.00077

5,248 views
9 citations

Original Research

Published on 04 Aug 2025

Application of family whole-exome sequencing for prenatal diagnosis—an analysis of 357 cases

in Obstetrics and Gynecology

Yijun Ge
Huizhen Yuan
Yao Yu
Junfang Xiao
Danping Liu
Yongbao Peng
Ying Liu
Shuhui Huang
Bicheng Yang
Yongyi Zou

Frontiers in Medicine

doi 10.3389/fmed.2025.1529894

3,125 views
1 citation

Articles

A de Novo ZMIZ1 Pathogenic Variant for Neurodevelopmental Disorder With Dysmorphic Facies and Distal Skeletal Anomalies

Renal and Skeletal Anomalies in a Cohort of Individuals With Clinically Presumed Hereditary Nephropathy Analyzed by Molecular Genetic Testing

From Disease Description and Gene Discovery to Functional Cell Pathway: A Decade-Long Journey for TMCO1

Combined surgery and sclerotherapy for 13 years: a case report of a patient with CLOVES

Toxic Effects of Zinc Chloride on the Bone Development in Danio rerio (Hamilton, 1822)

Targeted therapies for vascular malformations

Postnatal Craniofacial Skeletal Development of Female C57BL/6NCrl Mice

The first case report of CODAS syndrome in Chinese population caused by two LONP1 pathogenic mutations

Case report: A study on the de novo KMT2D variant of Kabuki syndrome with Goodpasture’s syndrome by whole exome sequencing

Expanding the Clinical Spectrum of LONP1-Related Mitochondrial Cytopathy

Case Report: Stüve–Wiedemann syndrome—a rare cause of persistent pulmonary hypertension of the newborn

Comparing a Novel Malformation Syndrome Caused by Pathogenic Variants in FBRSL1 to AUTS2 Syndrome

Application of trio-based whole-exome sequencing in fetal ultrasound anomalies: a single-center retrospective study of 454 cases

Corrigendum: Myotonic Myopathy With Secondary Joint and Skeletal Anomalies From the c.2386C>G, p.L796V Mutation in SCN4A

Myotonic Myopathy With Secondary Joint and Skeletal Anomalies From the c.2386C>G, p.L796V Mutation in SCN4A

Application of family whole-exome sequencing for prenatal diagnosis—an analysis of 357 cases