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

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

Key Clinical Message 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 in...

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Bibliographic Details
Main Authors: Meg Shieh, Keren Amkraut, Gail A. Spiridigliozzi, Tatyana Adayev, Kaylea Nicholson, Allyn McConkie‐Rosell, Marie McDonald, Malinda Pennington, Siby Sebastian, Ave M. Lachiewicz
Format: Article
Language:English
Published: Wiley 2023-06-01
Series:Clinical Case Reports
Subjects:
fragile X syndrome
unmethylated full mutation
high functioning
FMR1
Online Access:https://doi.org/10.1002/ccr3.7371

Internet

https://doi.org/10.1002/ccr3.7371

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