Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability

By searching a clinical database of over 60,000 individuals referred for array-based CNV analyses and online resources, we identified four males from three families with intellectual disability, developmental delay, hypotonia, joint hypermobility and relative macrocephaly who carried small, overlapp...

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Detalles Bibliográficos
Autores principales: Grau, Christina, Starkovich, Molly, Azamian, Mahshid S., Xia, Fan, Cheung, Sau Wai, Evans, Patricia, Henderson, Alex, Lalani, Seema R., Scott, Daryl A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5393878/
https://www.ncbi.nlm.nih.gov/pubmed/28414775
http://dx.doi.org/10.1371/journal.pone.0175962

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5393878/
https://www.ncbi.nlm.nih.gov/pubmed/28414775
http://dx.doi.org/10.1371/journal.pone.0175962

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