A HS6ST2 gene variant associated with X‐linked intellectual disability and severe myopia in two male twins

X‐linked intellectual disability (XLID) refers to a clinically and genetically heterogeneous neurodevelopmental disorder, in which males are more heavily affected than females. Among the syndromic forms of XLID, identified by additional clinical signs as part of the disease spectrum, the association...

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Detalhes bibliográficos
Publicado no:Clin Genet
Main Authors: Paganini, Leda, Hadi, Loubna A., Chetta, Massimiliano, Rovina, Davide, Fontana, Laura, Colapietro, Patrizia, Bonaparte, Eleonora, Pezzani, Lidia, Marchisio, Paola, Tabano, Silvia M., Costanza, Jole, Sirchia, Silvia M., Riboni, Laura, Milani, Donatella, Miozzo, Monica
Formato: Artigo
Idioma:Inglês
Publicado em: Blackwell Publishing Ltd 2018
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6392117/
https://ncbi.nlm.nih.gov/pubmed/30471091
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.13485
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