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...

תיאור מלא

שמור ב:
מידע ביבליוגרפי
הוצא לאור ב: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
פורמט: Artigo
שפה:Inglês
יצא לאור: Blackwell Publishing Ltd 2018
נושאים:
Original Articles
גישה מקוונת: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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