Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life

We present the first patient described with haploinsufficency of KMT2D leading to Kabuki syndrome. Deletion of KMT2D has been thought to be lethal, but here we describe a patient with KMT2D deletion and classical Kabuki syndrome phenotype.[Image: see text]

Detalles Bibliográficos
Autores principales: Luperchio, Teresa Romeo, Applegate, Carolyn D., Bodamer, Olaf, Bjornsson, Hans Tomas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Letter to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7005614/
https://www.ncbi.nlm.nih.gov/pubmed/31814321
http://dx.doi.org/10.1002/mgg3.1072
Descripción
Sumario:We present the first patient described with haploinsufficency of KMT2D leading to Kabuki syndrome. Deletion of KMT2D has been thought to be lethal, but here we describe a patient with KMT2D deletion and classical Kabuki syndrome phenotype.[Image: see text]

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