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Heterozygous variants in SIX3 and POU1F1 cause pituitary hormone deficiency in mouse and man

Congenital hypopituitarism is a genetically heterogeneous condition that is part of a spectrum disorder that can include holoprosencephaly. Heterozygous mutations in SIX3 cause variable holoprosencephaly in humans and mice. We identified two children with neonatal hypopituitarism and thin pituitary...

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Detalles Bibliográficos
Autores principales:	Bando, Hironori, Brinkmeier, Michelle L, Castinetti, Frederic, Fang, Qing, Lee, Mi-Sun, Saveanu, Alexandru, Albarel, Frédérique, Dupuis, Clémentine, Brue, Thierry, Camper, Sally A
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2022
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9851746/ https://www.ncbi.nlm.nih.gov/pubmed/35951005 http://dx.doi.org/10.1093/hmg/ddac192

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