A novel variant in the DSE gene leads to Ehlers–Danlos musculocontractural type 2 in a Pakistani family-Reference-Cited by-同舟云学术

A novel variant in the DSE gene leads to Ehlers–Danlos musculocontractural type 2 in a Pakistani family

Published:2021-07-13 Issue:5 Volume:61 Page:177-182
ISSN:0914-3505
Container-title:Congenital Anomalies
language:en
Short-container-title:Congenit Anom

Author:

Ullah Ikram¹,Aamir Muhammad¹,Ilyas Muhammad¹²³^ORCID,Ahmed Akmal²,Jelani Musharraf¹,Ullah Wahid¹,Abbas Muhammad¹,Ishfaq Muhammad¹,Ali Fawad⁴⁵,Yip Janice³,Efthymiou Stephanie³,Ahmed Habib¹²,Houlden Henry³

Affiliation:

1. Centre for Omic Sciences Islamia College Peshawar Peshawar Pakistan

2. Centre for Human Genetics Hazara University Mansehra Mansehra Pakistan

3. Queen Square Institute of Neurology University College London London UK

4. Neurology Unit Saidu Group of Teaching Hospitals Swat Pakistan

5. Neurology Luqman International Hospital Saidu Sharif Pakistan

Funder

Wellcome Trust

Publisher

Wiley

Subject

Developmental Biology,Embryology,General Medicine,Pediatrics, Perinatology, and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cga.12436

Reference11 articles.

1. The 2017 international classification of the Ehlers-Danlos syndromes

2. DSE associated musculocontractural EDS, a milder phenotype or phenotypic variability

3. Ehlers–Danlos syndrome: how to diagnose and when to perform genetic tests

4. Heritable Collagen Disorders: The Paradigm of the Ehlers—Danlos Syndrome

5. The Ehlers-Danlos Syndrome

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Alterations in glycosaminoglycan biosynthesis associated with the Ehlers-Danlos syndromes;American Journal of Physiology-Cell Physiology;2022-12-01

2. Clinical and pathophysiological delineation of musculocontractural Ehlers—Danlos syndrome caused by dermatan sulfate epimerase deficiency (mcEDS‐ DSE ): A detailed and comprehensive glycobiological and pathological investigation in a novel patient;Human Mutation;2022-07-23

3. The Specific Role of Dermatan Sulfate as an Instructive Glycosaminoglycan in Tissue Development;International Journal of Molecular Sciences;2022-07-05