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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Autori principali: Lim, Ji-Hun, Seo, Eul-Ju, Kim, Yoo-Mi, Cho, Hyun-Ju, Lee, Jin-Ok, Cheon, Chong Kun, Yoo, Han-Wook
Natura: Artigo
Lingua:Inglês
Pubblicazione: The Korean Society for Laboratory Medicine 2014
Soggetti:
Case Report
Accesso online: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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