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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 |
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| Autori principali: | , , , , , , , , , , , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Elsevier
2016
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| Soggetti: | |
| 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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