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Article

IMAGe and Related Undergrowth Syndromes: The Complex Spectrum of Gain-of-Function CDKN1C Mutations.

Pediatric endocrinology reviews : PER - 1 Mar 2017

Cabrera-Salcedo Catalina, Kumar Priya, Hwa Vivian, Dauber Andrew

Abstract excerpt

CDKN1C is a cyclin-dependent kinase Inhibitor and negative regulator of cellular proliferation. Recently, gain-of-function mutations in the PCNA domain of CDKN1C have been reported as the genetic basis of various growth-retarded syndromes including IMAGe syndrome, Russell Silver syndrome as well as a novel undergrowth syndrome that additionally exhibited early adulthood onset diabetes. This review summarizes the...

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Identifiers

PMID: 28508599
DOI: 10.17458/per.vol14.2017.SKHD.imageandrelatedundergrowth

Genes

PCNA

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IMAGe and Related Undergrowth Syndromes: The Complex Spectrum of Gain-of-Function CDKN1C Mutations.PMID 28508599Read ↗

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