Original paper

Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome

Volume: 155, Issue: 7, Pages: 1511 - 1516
Published: Jun 10, 2011
Abstract
Kabuki syndrome is a rare, multiple malformation disorder characterized by a distinctive facial appearance, cardiac anomalies, skeletal abnormalities, and mild to moderate intellectual disability. Simplex cases make up the vast majority of the reported cases with Kabuki syndrome, but parent‐to‐child transmission in more than a half‐dozen instances indicates that it is an autosomal dominant disorder. We recently reported that Kabuki syndrome is...
Paper Details
Title
Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome
Published Date
Jun 10, 2011
Volume
155
Issue
7
Pages
1511 - 1516
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