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Publication year
2004Source
Nature Genetics, 36, 9, (2004), pp. 955-7ISSN
Publication type
Article / Letter to editor
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Organization
Human Genetics
Otorhinolaryngology
Paediatrics - OUD tm 2017
Journal title
Nature Genetics
Volume
vol. 36
Issue
iss. 9
Page start
p. 955
Page end
p. 7
Subject
UMCN 1.2: Molecular diagnosis, prognosis and monitoring; UMCN 3.3: Neurosensory disordersAbstract
CHARGE syndrome is a common cause of congenital anomalies affecting several tissues in a nonrandom fashion. We report a 2.3-Mb de novo overlapping microdeletion on chromosome 8q12 identified by array comparative genomic hybridization in two individuals with CHARGE syndrome. Sequence analysis of genes located in this region detected mutations in the gene CHD7 in 10 of 17 individuals with CHARGE syndrome without microdeletions, accounting for the disease in most affected individuals.
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- Faculty of Medical Sciences [90373]
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