Novel truncating variants in <scp> <i>FGD1</i> </scp> detected in two Danish families with <scp>Aarskog–Scott</scp> syndrome and myopathic features-Reference-Cited by-同舟云学术

Novel truncating variants in FGD1 detected in two Danish families with Aarskog–Scott syndrome and myopathic features

Published:2022-04-07 Issue:7 Volume:188 Page:2251-2257
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Bayat Allan¹²^ORCID,Krett Bjørg³,Dunø Morten⁴,Torring Pernille Mathiesen⁵,Vissing John³

Affiliation:

1. Department of Epilepsy Genetics and Personalized Medicine Danish Epilepsy Centre Dianalund Denmark

2. Institute for Regional Health Services University of Southern Denmark Odense Denmark

3. Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet University of Copenhagen Copenhagen Denmark

4. Department of Clinical Genetics, Molecular Genetic Laboratory University Hospital Copenhagen Copenhagen Denmark

5. Department of Clinical Genetics Odense University Hospital Odense Denmark

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62753

Reference24 articles.

1. Novel FGD1 mutation underlying Aarskog–Scott syndrome with myopathy and distal arthropathy

2. A novel mutation in a mother and a son with Aarskog-Scott syndrome

3. Exome Sequencing Identifies A Branch Point Variant in Aarskog-Scott Syndrome

4. The first Korean family with Aarskog–Scott syndrome harboring a novel mutation in FGD1 diagnosed via targeted gene panel sequencing;Bae G. Y.;Annals of Clinical and Laboratory Science,2020

5. First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog–Scott syndrome

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2. Case Report: Aarskog-scott syndrome caused by FGD1 gene variation: A family study;Frontiers in Genetics;2022-08-16