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Article

Heterozygous variants in SIX3 and POU1F1 cause pituitary hormone deficiency in mouse and man.

Human molecular genetics - 13 Jan 2023

Bando Hironori, Brinkmeier Michelle L, Castinetti Frederic, Fang Qing, Lee Mi-Sun, Saveanu Alexandru, Albarel Frédérique, Dupuis Clémentine, Brue Thierry, Camper Sally A

Abstract excerpt

Congenital hypopituitarism is a genetically heterogeneous condition that is part of a spectrum disorder that can include holoprosencephaly. Heterozygous mutations in SIX3 cause variable holoprosencephaly in humans and mice. We identified two children with neonatal hypopituitarism and thin pituitary stalk who were doubly heterozygous for rare, likely deleterious variants in the transcription factors SIX3 and...

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Identifiers

PMID: 35951005
DOI: 10.1093/hmg/ddac192
PMCID: PMC9851746

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Heterozygous variants in SIX3 and POU1F1 cause pituitary hormone deficiency in mouse and man.PMID 35951005Read ↗

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