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Published in 2022 at "Human Molecular Genetics"
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…
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Keywords:
heterozygous variants;
pou1f1;
variants six3;
cause ... See more keywords