Publication
Title
A boy with mental retardation, obesity and hypertrichosis caused by a microdeletion of 19p13.12
Author
Abstract
We present a moderately mentally retarded boy with obesity, short stature, hypertrichosis and facial dysmorphism due to a deletion of 1.2 Mb on chromosome 19p13.2. The deletion was de novo and familial history was negative for the disorder. Genes in the deleted region possibly related to the clinical symptoms of our patient include NOTCH3 (MIM600276), causative of the vascular neurodegenerative disorder CADASIL and CASP14 (MIM605848), playing a central role in apoptosis in the inner root sheeth of the hair follicle.
Language
English
Source (journal)
European journal of medical genetics. - Paris
Publication
Paris : 2010
ISSN
1769-7212
Volume/pages
53:5(2010), p. 291-293
ISI
000285186100012
Full text (Publishers DOI)
UAntwerpen
Faculty/Department
Research group
Publication type
Subject
Affiliation
Publications with a UAntwerp address
External links
Web of Science
Record
Identification
Creation 16.02.2011
Last edited 08.04.2017
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