A Novel Variant in CDKN1C Is Associated With Intrauterine Growth Restriction, Short Stature, and Early-Adulthood-Onset Diabetes

CONTEXT: CDKN1C, a cyclin-dependent kinase inhibitor and negative regulator of cellular proliferation, is paternally imprinted and has been shown to regulate β-cell proliferation. CDKN1C mutations are associated with growth disorders, including Beckwith-Wiedemann syndrome and IMAGe syndrome. OBJECTI...

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Autores principales: Kerns, Sarah L., Guevara-Aguirre, Jaime, Andrew, Shayne, Geng, Juan, Guevara, Carolina, Guevara-Aguirre, Marco, Guo, Michael, Oddoux, Carole, Shen, Yiping, Zurita, Andres, Rosenfeld, Ron G., Ostrer, Harry, Hwa, Vivian, Dauber, Andrew
Formato: Artigo
Lenguaje:Inglês
Publicado: Endocrine Society 2014
Materias:
JCEM Online: Advances in Genetics
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4184067/
https://ncbi.nlm.nih.gov/pubmed/25057881
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2014-1949
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