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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Detalles Bibliográficos
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: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2018
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6392117/
https://www.ncbi.nlm.nih.gov/pubmed/30471091
http://dx.doi.org/10.1111/cge.13485

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