De novo mutations in MLL cause Wiedemann-Steiner syndrome.
Abstract
Excessive growth of terminal hair around the elbows (hypertrichosis cubiti) has been reported both in isolation and in association with a variable spectrum of associated phenotypic features. We identified a cohort of six individuals with hypertrichosis cubiti associated with short stature, intellectual disability, and a distinctive facial appearance, consistent with a diagnosis of Wiedemann-Steiner syndrome (WSS). Utilizing a whole-exome...
Paper Details
Title
De novo mutations in MLL cause Wiedemann-Steiner syndrome.
Published Date
Aug 10, 2012
Volume
91
Issue
2
Pages
358 - 364
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