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Published in 2023 at "Biochemical Society transactions"
DOI: 10.1042/bst20220920
Abstract: Mutations in the polyglutamine tract-binding protein 1 (PQBP1) gene are associated with Renpenning syndrome, which is characterized by microcephaly, intellectual deficiency, short stature, small testes, and distinct facial dysmorphism. Studies using different models have revealed…
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Keywords:
neural development;
function;
role pqbp1;
pqbp1 neural ... See more keywords