Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome

Despite the accelerated discovery of genes associated with syndromic traits, the majority of families affected by such conditions remain undiagnosed. Here, we employed whole-exome sequencing in two unrelated consanguineous kindreds with central nervous system (CNS), cardiac, renal, and digit abnorma...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Ta-Shma, Asaf, Khan, Tahir N., Vivante, Asaf, Willer, Jason R., Matak, Pavle, Jalas, Chaim, Pode-Shakked, Ben, Salem, Yishay, Anikster, Yair, Hildebrandt, Friedhelm, Katsanis, Nicholas, Elpeleg, Orly, Davis, Erica E.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2017
Assuntos:
Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5384036/
https://ncbi.nlm.nih.gov/pubmed/28318500
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2017.02.007
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