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Digenic Inheritance of PROKR2 and WDR11 Mutations in Pituitary Stalk Interruption Syndrome

CONTEXT: Pituitary stalk interruption syndrome (PSIS, ORPHA95496) is a congenital defect of the pituitary gland characterized by the triad of a very thin/interrupted pituitary stalk, an ectopic (or absent) posterior pituitary gland, and hypoplasia or aplasia of the anterior pituitary gland. Complex...

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Detalles Bibliográficos
Autores principales:	McCormack, Shana E., Li, Dong, Kim, Yeon Joo, Lee, Ji Young, Kim, Soo-Hyun, Rapaport, Robert, Levine, Michael A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Endocrine Society 2017
Materias:	Clinical Research Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5505202/ https://www.ncbi.nlm.nih.gov/pubmed/28453858 http://dx.doi.org/10.1210/jc.2017-00332

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