A novel KMT2D mutation resulting in Kabuki syndrome: A case report

Kabuki syndrome (KS) is a rare genetic syndrome characterized by multiple congenital anomalies and varying degrees of mental retardation. Patients with KS often present with facial, skeletal, visceral and dermatoglyphic abnormalities, cardiac anomalies and immunological defects. Mutation of the lysi...

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Detalles Bibliográficos
Autores principales: Lu, Jun, Mo, Guiling, Ling, Yaojun, Ji, Lijuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2016
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5042757/
https://www.ncbi.nlm.nih.gov/pubmed/27573763
http://dx.doi.org/10.3892/mmr.2016.5683

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5042757/
https://www.ncbi.nlm.nih.gov/pubmed/27573763
http://dx.doi.org/10.3892/mmr.2016.5683

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