Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects

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 ident...

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Pubblicato in:Am J Hum Genet
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2016
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4908149/
https://ncbi.nlm.nih.gov/pubmed/27259054
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.03.030
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