Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability Syndrome

We studied two unrelated boys with intellectual disability (ID) and a striking facial resemblance suggestive of a hitherto unappreciated syndrome. Exome sequencing in both families identified identical de novo mutations in PACS1, suggestive of causality. To support these genetic findings and to unde...

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Autores principales: Schuurs-Hoeijmakers, Janneke H.M., Oh, Edwin C., Vissers, Lisenka E.L.M., Swinkels, Mariëlle E.M., Gilissen, Christian, Willemsen, Michèl A., Holvoet, Maureen, Steehouwer, Marloes, Veltman, Joris A., de Vries, Bert B.A., van Bokhoven, Hans, de Brouwer, Arjan P.M., Katsanis, Nicholas, Devriendt, Koenraad, Brunner, Han G.
Formato: Artigo
Lenguaje:Inglês
Publicado: Elsevier 2012
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3516611/
https://ncbi.nlm.nih.gov/pubmed/23159249
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.10.013
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