SIX3 Variant Causes Pituitary Stalk Interruption Syndrome and Combined Pituitary Hormone Deficiency

The genetic basis for congenital hypopituitarism and related disorders is beginning to emerge, and over 30 causal genes have been identified. Mutations in some of these genes can also cause holoprosencephaly (HPE) or septo-optic dysplasia. SIX3 is a homeodomain protein expressed in the developing br...

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Detalles Bibliográficos
Publicado en:J Endocr Soc
Autores principales: Bando, Hironori, Brinkmeier, Michelle, Gergics, Peter, Fang, Qing, Mortensen, Amanda Helen, Ozel, Ayse Bilge, Ma, Qianyi, Li, Jun, Reynaud, Rachel, Castinetti, Frederic, Brue, Thierry Christian, Camper, Sally Ann
Formato: Artigo
Lenguaje:Inglês
Publicado: Oxford University Press 2021
Materias:
Neuroendocrinology and Pituitary
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC8090570/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvab048.1079
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