论文信息 - Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life

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.

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