SOX3 gene duplication (OMIM 313430) associated with midline CNS malformations, hypopituitarism and neurodevelopmental abnormalities: 3 unrelated cases

Autor:	Charles Buchanan, Tony Hulse, Ritika Kapoor, Michal Ajzensztejn, Aparna K.R. Nambisan
Rok vydání:	2017
Předmět:	Genetics Cns malformations business.industry Gene duplication medicine Hypopituitarism medicine.disease Bioinformatics business
Zdroj:	Endocrine Abstracts.
ISSN:	1479-6848
DOI:	10.1530/endoabs.51.p043
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::b5781b46560eddf1a58cb2b2be5180e2 https://doi.org/10.1530/endoabs.51.p043 Zobrazit plný text záznamu