A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome

BACKGROUND: Endocrine-cerebro-osteodysplasia (ECO) syndrome [MIM:612651] caused by a recessive mutation (p.R272Q) in Intestinal cell kinase (ICK) shows significant clinical overlap with ciliary disorders. Similarities are strongest between ECO syndrome, the Majewski and Mohr-Majewski short-rib thora...

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Detalles Bibliográficos
Autores principales: Oud, Machteld M., Bonnard, Carine, Mans, Dorus A., Altunoglu, Umut, Tohari, Sumanty, Ng, Alvin Yu Jin, Eskin, Ascia, Lee, Hane, Rupar, C. Anthony, de Wagenaar, Nathalie P., Wu, Ka Man, Lahiry, Piya, Pazour, Gregory J., Nelson, Stanley F., Hegele, Robert A., Roepman, Ronald, Kayserili, Hülya, Venkatesh, Byrappa, Siu, Victoria M., Reversade, Bruno, Arts, Heleen H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4827216/
https://www.ncbi.nlm.nih.gov/pubmed/27069622
http://dx.doi.org/10.1186/s13630-016-0029-1

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