Heterozygous variants in SIX3 and POU1F1 cause pituitary hormone deficiency in mouse and man
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DOI: 10.1093/hmg/ddac192
Abstract: Abstract 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… read more here.
Keywords: heterozygous variants; pou1f1; variants six3; cause ... See more keywords