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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:J Endocr Soc
Autors principals: 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
Idioma:Inglês
Publicat: Oxford University Press 2021
Matèries:
Neuroendocrinology and Pituitary
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC8090570/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvab048.1079
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars