[CIS PIDD] [cis-pidd] Kabuki Syndrome with normal KDM6A and KMT2D sequences

[CIS-PIDD]

Colleagues:

I follow a 14 yo girl with classic features of Kabuki syndrome with immune deficiency.  The family history is negative.

However, sequencing of the two genes associated with this syndrome, KDM6A and KMT2D revealed no sequence variants that are likely to be a cause of the patient's clinical features.

The patient's insurance will not cover whole exome sequencing.  Are any of you involved in the study of this syndrome, or familiar with someone who is?

Any help would be appreciated.

Joe Church
Children's Hospital Los Angeles




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