Heterozygous variants in SIX3 and POU1F1 cause pituitary hormone deficiency in mouse and man
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...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9851746/ https://www.ncbi.nlm.nih.gov/pubmed/35951005 http://dx.doi.org/10.1093/hmg/ddac192 |