P08.4 Large interstitial deletion of the short arm of chromosome 3 (3p12.3-p14.1): report of MITF haploinsufficiency non resulting in Waardenburg 2a phenotype

Autor:	B. Grisart, A. Monier, Bernard Dan, A. Aeby, H. Dessy, Catheline Vilain
Rok vydání:	2011
Předmět:	Genetics Chromosome 3 Pediatrics Perinatology and Child Health Neurology (clinical) General Medicine Biology Microphthalmia-associated transcription factor Haploinsufficiency Phenotype
Zdroj:	European Journal of Paediatric Neurology. 15:S66
ISSN:	1090-3798
DOI:	10.1016/s1090-3798(11)70224-0
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::1f9e532f5a9e6c75b9a60882dc30b79e https://doi.org/10.1016/s1090-3798(11)70224-0 Zobrazit plný text záznamu Full Text from ScienceDirect