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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Bibliografiske detaljer
Udgivet i:J Endocr Soc
Main Authors: 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
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2021
Fag:
Neuroendocrinology and Pituitary
Online adgang: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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