Syndromic X-linked intellectual disability segregating with a missense variant in RLIM

We describe a three-generation Norwegian family with a novel X-linked intellectual disability (XLID) syndrome characterized by subtle facial dysmorphism, autism and severe feeding problems. By exome sequencing we detected a rare missense variant (c.1067A>G, p.(Tyr356Cys)) in the RLIM gene, in two...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Tønne, Elin, Holdhus, Rita, Stansberg, Christine, Stray-Pedersen, Asbjørg, Petersen, Kjell, Brunner, Han G, Gilissen, Christian, Hoischen, Alexander, Prescott, Trine, Steen, Vidar M, Fiskerstrand, Torunn
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4795204/
https://ncbi.nlm.nih.gov/pubmed/25735484
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.30
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