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Donor Splice-Site Mutation in CUL4B is Likely Cause of X-Linked Intellectual Disability

X-linked intellectual disability is the most common form of cognitive disability in males. Syndromic intellectual disability encompasses cognitive deficits with other medical and behavioral manifestations. Recently, a large family with a novel form of syndromic X-linked intellectual disability was c...

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Bibliografische gegevens
Gepubliceerd in:Am J Med Genet A
Hoofdauteurs: Londin, Eric R., Adijanto, Jeffrey, Philp, Nancy, Novelli, Antonio, Vitale, Emilia, Perria, Chiara, Serra, Gigliola, Alesi, Viola, Surrey, Saul, Fortina, Paolo
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2014
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4404493/
https://ncbi.nlm.nih.gov/pubmed/24898194
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.36629
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