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Molecular screening for fragile X syndrome in children with unexplained intellectual disability and/or autistic

Milena Stoyanova1, Mari Hachmeriyan1, Mariya Levkova1

  • 1Medical University of Varna, Varna, Bulgaria.

Folia Medica
|July 19, 2022
PubMed
Abstract

Introduction:

Fragile X syndrome (FXS, OMIM #300624) is the most common inherited form of intellectual disability and the leading monogenic cause of autism.

Keywords:
developmental delay FMR1 screening genetic counseling

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