Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia

KBG syndrome is characterized by intellectual disability associated with macrodontia of the upper central incisors as well as distinct craniofacial findings, short stature, and skeletal anomalies. Although believed to be genetic in origin, the specific underlying defect is unknown. Through whole-exo...

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Autores principales: Sirmaci, Asli, Spiliopoulos, Michail, Brancati, Francesco, Powell, Eric, Duman, Duygu, Abrams, Alex, Bademci, Guney, Agolini, Emanuele, Guo, Shengru, Konuk, Berrin, Kavaz, Asli, Blanton, Susan, Digilio, Maria Christina, Dallapiccola, Bruno, Young, Juan, Zuchner, Stephan, Tekin, Mustafa
Formato: Artigo
Lenguaje:Inglês
Publicado: Elsevier 2011
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3155157/
https://ncbi.nlm.nih.gov/pubmed/21782149
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2011.06.007
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