High performing male with fragile X syndrome with an unmethylated FMR1 full mutation: The relevance of clinical and genetic correlations

A high performing male with an unmethylated full mutation in the fragile X messenger ribonucleoprotein 1 (FMR1) gene surpassed our expectations into young adulthood. Although initial genetic findings helped make a correct fragile X syndrome (FXS) determination, the report was insufficient. Ten years...

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Detalles Bibliográficos
Autores principales: Shieh, Meg, Amkraut, Keren, Spiridigliozzi, Gail A., Adayev, Tatyana, Nicholson, Kaylea, McConkie‐Rosell, Allyn, McDonald, Marie, Pennington, Malinda, Sebastian, Siby, Lachiewicz, Ave M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10290186/
https://www.ncbi.nlm.nih.gov/pubmed/37361657
http://dx.doi.org/10.1002/ccr3.7371

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10290186/
https://www.ncbi.nlm.nih.gov/pubmed/37361657
http://dx.doi.org/10.1002/ccr3.7371

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