Knockout mice with pituitary malformations help identify human cases of hypopituitarism

Abstract Background Congenital hypopituitarism (CH) and its associated syndromes, septo-optic dysplasia (SOD) and holoprosencephaly (HPE), are midline defects that cause significant morbidity for affected people. Variants in 67 genes are associated with CH, but a vast majority of CH cases lack a gen...

Popoln opis

Bibliografske podrobnosti

Principais autores:	Julian Martinez-Mayer, Michelle L. Brinkmeier, Sean P. O’Connell, Arnold Ukagwu, Marcelo A. Marti, Mirta Miras, Maria V. Forclaz, Maria G. Benzrihen, Leonard Y. M. Cheung, Sally A. Camper, Buffy S. Ellsworth, Lori T. Raetzman, Maria I. Pérez-Millán, Shannon W. Davis
Format:	Artigo
Jezik:	Inglês
Izdano:	BMC 2024-05-01
Serija:	Genome Medicine
Teme:	Pituitary Hypothalamus Growth hormone Cleft palate Holoprosencephaly Septo-optic dysplasia
Online dostop:	https://doi.org/10.1186/s13073-024-01347-y
Oznake:	Označite Brez oznak, prvi označite!