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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Detalles Bibliográficos
Autores principales: Lim, Ji-Hun, Seo, Eul-Ju, Kim, Yoo-Mi, Cho, Hyun-Ju, Lee, Jin-Ok, Cheon, Chong Kun, Yoo, Han-Wook
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society for Laboratory Medicine 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4151010/
https://www.ncbi.nlm.nih.gov/pubmed/25187894
http://dx.doi.org/10.3343/alm.2014.34.5.390

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4151010/
https://www.ncbi.nlm.nih.gov/pubmed/25187894
http://dx.doi.org/10.3343/alm.2014.34.5.390

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