Deficiency of the Cyclin-Dependent Kinase Inhibitor, CDKN1B, Results in Overgrowth and Neurodevelopmental Delay

Germline mutations in the cyclin-dependent kinase inhibitor, CDKN1B, have been described in patients with multiple endocrine neoplasia (MEN), a cancer predisposition syndrome with adult onset neoplasia and no additional phenotypes. Here, we describe the first human case of CDKN1B deficiency, which r...

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Detalles Bibliográficos
Autores principales: Grey, William, Izatt, Louise, Sahraoui, Wafa, Ng, Yiu-Ming, Ogilvie, Caroline, Hulse, Anthony, Tse, Eric, Holic, Roman, Yu, Veronica
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2013
Materias:
Brief Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3708111/
https://www.ncbi.nlm.nih.gov/pubmed/23505216
http://dx.doi.org/10.1002/humu.22314

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