A de novo Microdeletion of ANKRD11 Gene in a Korean Patient with KBG Syndrome

KBG syndrome is a very rare genetic disorder characterized by macrodontia of upper central incisors, global developmental delay, distinctive craniofacial features, short stature, and skeletal anomalies. Ankyrin repeat domain 11 gene (ANKRD11) has recently been identified as a causal factor of this s...

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Detalhes bibliográficos
Main Authors: Lim, Ji-Hun, Seo, Eul-Ju, Kim, Yoo-Mi, Cho, Hyun-Ju, Lee, Jin-Ok, Cheon, Chong Kun, Yoo, Han-Wook
Formato: Artigo
Idioma:Inglês
Publicado em: The Korean Society for Laboratory Medicine 2014
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4151010/
https://ncbi.nlm.nih.gov/pubmed/25187894
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3343/alm.2014.34.5.390
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