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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Publicado en:Clin Genet
Autores principales: 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
Lenguaje:Inglês
Publicado: Blackwell Publishing Ltd 2018
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Original Articles
Acceso en línea: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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