Exome analysis of Smith–Magenis-like syndrome cohort identifies de novo likely pathogenic variants

Smith–Magenis syndrome (SMS), a neurodevelopmental disorder characterized by dysmorphic features, intellectual disability (ID), and sleep disturbances, results from a 17p11.2 microdeletion or a mutation in the RAI1 gene. We performed exome sequencing on 6 patients with SMS-like phenotypes but withou...

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Detalhes bibliográficos
Publicado no:Hum Genet
Main Authors: Berger, Seth I., Ciccone, Carla, Simon, Karen L., Malicdan, May Christine, Vilboux, Thierry, Billington, Charles, Fischer, Roxanne, Introne, Wendy J., Gropman, Andrea, Blancato, Jan K., Mullikin, James C., Gahl, William A., Huizing, Marjan, Smith, Ann C. M.
Formato: Artigo
Idioma:Inglês
Publicado em: 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5848494/
https://ncbi.nlm.nih.gov/pubmed/28213671
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-017-1767-x
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