Expanding the phenotype of SETD5-related disorder and presenting a novel association with bone fragility

Abstract

Patients with SETD5-related disorder have variable features of intellectual disability (ID), facial dysmorphism, cardiac and skeletal abnormalities, behavioural problems, and short stature.1 We present two patients with pathogenic SETD5 variants and bone fragility, a new associated phenotype. Both patients were recruited via the deciphering developmental disorders (DDD) study (https://www.deciphergenomics.org/) and informed consent for publication was obtained.

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Authors/Creators:	Anderson, E. Lam, Z. Arundel, P. Parker, M. Balasubramanian, M. https://orcid.org/0000-0003-1488-3695
Copyright, Publisher and Additional Information:	© 2021 The Authors. Clinical Genetics published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, (http://creativecommons.org/licenses/by-nc-nd/4.0/) which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.
Dates:	Accepted: 18 June 2021 Published (online): 24 June 2021 Published: September 2021
Institution:	The University of Sheffield
Academic Units:	The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > Department of Human Metabolism (Sheffield) The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > Department of Oncology (Sheffield)
Depositing User:	Symplectic Sheffield
Date Deposited:	05 May 2022 14:57
Last Modified:	05 May 2022 15:11
Status:	Published
Publisher:	Wiley
Refereed:	Yes
Identification Number:	https://doi.org/10.1111/cge.14014
Related URLs:	Author

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Expanding the phenotype of SETD5-related disorder and presenting a novel association with bone fragility

Abstract

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