A rare mutation in the EPG5 gene causes Vici syndrome

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Date

2018

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Journal ISSN

Volume Title

Publisher

Lippincott Williams & Wilkins

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info:eu-repo/semantics/closedAccess

DOI

10.1097/MCD.0000000000000233

Abstract

[Abstract Not Available]

Description

Keywords

Sensorineural Hearing-Loss , Corpus-Callosum , Muscle Biopsy , Immunodeficiency , Hypopigmentation , Agenesis

Journal or Series

Clinical Dysmorphology

WoS Q Value

Q4

Scopus Q Value

Q3

Volume

27

Issue

4

Citation

URI

https://doi.org/10.1097/MCD.0000000000000233
 https://hdl.handle.net/11508/48994

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info:eu-repo/semantics/closedAccess