Massively Parallel Sequencing of Exons on the X Chromosome Identifies RBM10 as the Gene that Causes a Syndromic Form of Cleft Palate

Micrognathia, glossoptosis, and cleft palate comprise one of the most common malformation sequences, Robin sequence. It is a component of the TARP syndrome, talipes equinovarus, atrial septal defect, Robin sequence, and persistent left superior vena cava. This disorder is X-linked and severe, with a...

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Main Authors: Johnston, Jennifer J., Teer, Jamie K., Cherukuri, Praveen F., Hansen, Nancy F., Loftus, Stacie K., Chong, Karen, Mullikin, James C., Biesecker, Leslie G.
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2010
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2868995/
https://ncbi.nlm.nih.gov/pubmed/20451169
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.04.007
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