Article
Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects.
American journal of human genetics - 2 Jun 2016
Boyle Lia, Wamelink Mirjam M C, Salomons Gajja S, Roos Birthe, Pop Ana, Dauber Andrew, Hwa Vivian, Andrew Melissa, Douglas Jessica, Feingold Murray, Kramer Nancy, Saitta Sulagna, Retterer Kyle, Cho Megan T, Begtrup Amber, Monaghan Kristin G, Wynn Julia, Chung Wendy K
Abstract excerpt
Whole-exome sequencing (WES) is increasingly being utilized to diagnose individuals with undiagnosed disorders. Developmental delay and short stature are common clinical indications for WES. We performed WES in three families, using proband-parent trios and two additional affected siblings. We identified a syndrome due to an autosomal-recessively inherited deficiency of transketolase, encoded by TKT, on...
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