Article

CDKN1C gene mutation causing familial Silver–Russell syndrome, with family pedigree

2022-11-30

Abstract excerpt

<h4>Background: </h4> CDKN1C is a cell proliferation inhibitor that regulates the cell cycle and cell growth through G1 cell cycle arrest. CDKN1C mutations can lead to IMAGe syndrome ( CDKN1C allele gain-of-function mutations lead to i ntrauterine growth retardation, primary a drenal insufficiency, m etaphyseal dysplasia, and ge nital malformations). So far,There are three reported pedigrees worldwide had CDKN1C m...

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Literature Corpus work: 6bbd10b0-926a-5308-9de8-00ee0ecca89d
DOI: 10.21203/rs.3.rs-2314166/v1

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