Publication
Title
Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation : a case report suggesting a genotype-phenotype correlation
Author
Abstract
VPS45 mutations cause severe congenital neutropenia (SCN). We report on a girl with SCN and neurological impairment harboring a homozygous p. E238K mutation in VPS45 (vacuolar sorting protein 45). She successfully underwent hematopoietic stem cell transplantation. Our findings delineate the phenotype and indicate a possible genotype-phenotype correlation for neurological involvement. (C) 2015 Wiley Periodicals, Inc.
Language
English
Source (journal)
American journal of medical genetics : part A. - Bognor Regis, 2003, currens
Publication
Bognor Regis : 2015
ISSN
1552-4825 [print]
1552-4833 [online]
Volume/pages
167:12(2015), p. 3214-3218
ISI
000367668600047
Full text (Publisher's DOI)
Full text (publisher's version - intranet only)
UAntwerpen
Faculty/Department
Research group
Publication type
Subject
Affiliation
Publications with a UAntwerp address
External links
Web of Science
Record
Identification
Creation 16.02.2016
Last edited 22.07.2017
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