Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

Loss-of-function variants in ANKRD11 were identified as the cause of KBG syndrome, an autosomal dominant syndrome with specific dental, neurobehavioural, craniofacial and skeletal anomalies. We present the largest cohort of KBG syndrome cases confirmed by ANKRD11 variants reported so far, consisting...

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Bibliografski detalji
Izdano u:Eur J Hum Genet
Glavni autori: Ockeloen, Charlotte W, Willemsen, Marjolein H, de Munnik, Sonja, van Bon, Bregje WM, de Leeuw, Nicole, Verrips, Aad, Kant, Sarina G, Jones, Elizabeth A, Brunner, Han G, van Loon, Rosa LE, Smeets, Eric EJ, van Haelst, Mieke M, van Haaften, Gijs, Nordgren, Ann, Malmgren, Helena, Grigelioniene, Giedre, Vermeer, Sascha, Louro, Pedro, Ramos, Lina, Maal, Thomas JJ, van Heumen, Celeste C, Yntema, Helger G, Carels, Carine EL, Kleefstra, Tjitske
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group 2015
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Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4538199/
https://ncbi.nlm.nih.gov/pubmed/25424714
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.253
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