The histone methyltransferase KMT2D, mutated in Kabuki syndrome patients, is required for neural crest cell formation and migration

Kabuki syndrome is an autosomal dominant developmental disorder with high similarities to CHARGE syndrome. It is characterized by a typical facial gestalt in combination with short stature, intellectual disability, skeletal findings and additional features like cardiac and urogenital malformations,...

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Detalles Bibliográficos
Autores principales: Schwenty-Lara, Janina, Nehl, Denise, Borchers, Annette
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
General Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7003132/
https://www.ncbi.nlm.nih.gov/pubmed/31813957
http://dx.doi.org/10.1093/hmg/ddz284

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7003132/
https://www.ncbi.nlm.nih.gov/pubmed/31813957
http://dx.doi.org/10.1093/hmg/ddz284

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