Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly

Autor:	A.-L. Bruel, J. Thevenon, F. Huet, N. Jean-Marcais, S. Odent, C. Dubourg, D. Lehalle, F. Tran Mau-Them, C. Philippe, S. Moutton, N. Houcinat, S. Gay, L. Guibaud, Y. Duffourd, J.-B. Rivière, L. Faivre, C. Thauvin-Robinet
Rok vydání:	2018
Předmět:	0301 basic medicine Genetics Microcephaly Coloboma media_common.quotation_subject Nonsense Biology medicine.disease Phenotype 03 medical and health sciences 030104 developmental biology Intellectual disability Variable phenotype medicine Genetics (clinical) Exome sequencing media_common
Zdroj:	Clinical Genetics. 94:182-184
ISSN:	0009-9163
DOI:	10.1111/cge.13211
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::81ee47eb99e5d4f72731cf52a2b01522 https://doi.org/10.1111/cge.13211 Zobrazit plný text záznamu Plný text