Article
Knockout mice with pituitary malformations help identify human cases of hypopituitarism.
Genome medicine - 31 May 2024
Martinez-Mayer Julian, Brinkmeier Michelle L, O'Connell Sean P, Ukagwu Arnold, Marti Marcelo A, Miras Mirta, Forclaz Maria V, Benzrihen Maria G, Cheung Leonard Y M, Camper Sally A, Ellsworth Buffy S, Raetzman Lori T, Pérez-Millán Maria I, Davis Shannon W
Abstract excerpt
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 genetic diagnosis. Whole exome and whole genome sequencing of CH patients identifies sequence variants in genes known to cause...
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