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  1. FMR1 Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1384
    ... individuals with the following clinical and associated findings. Fragile X syndrome (FXS) Males and females with intellectual disability or developmental ...
  2. GM3 Synthase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK593237
    ... cortical dysplasia on brain MRI & relative macrocephaly. FMR1 Fragile X syndrome (FXS) (See FMR1 Disorders .) XL DD, ID Relative macrocephaly ...
  3. Fragile X Syndrome 
    https://medlineplus.gov/fragilexsyndrome.html
    Fragile X syndrome is caused by a change in a gene and is passed from parent to child. Learn about symptoms and effects of this genetic disorder.
  4. NLM Digital Collections - Medical devices 
    Publication: [Toronto, Ontario] : Thomson Reuters, 21-December-2020
    resource.nlm.nih.gov/101777345
    ... test to detect a genetic condition known as Fragile X Syndrome (FXS), the most common known cause of inherited developmental ... diagnosis is key to helping children affected with Fragile X Syndrome through ... aiding in the diagnosis of FXS and for carrier testing, this test can be ...
  5. xmlmplus_topics_2025-03-29.xml 
    https://medlineplus.gov/xml/mplus_topics_2025-03-29.xml
    ... topic ><also-called >FRAXA</also-called><also-called >FXS</also-called><full-summary ><p>Fragile X syndrome is the most common form of inherited <TOPIC ...
  6. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... gov/genetics/condition/fragile-x-syndrome</url><title >Fragile X syndrome</title><other_names ><other_name >FRAXA syndrome</other_name><other_name >FXS</other_name><other_name >Fra(X) syndrome</other_ ...
  7. Fragile X syndrome 
    https://medlineplus.gov/genetics/condition/fragile-x-syndrome
    ... the FMR1 gene. Fra(X) syndrome FRAXA syndrome FXS Marker X syndrome Martin-Bell syndrome X-linked mental retardation and macroorchidism Genetic Testing Registry: Fragile X syndrome Fragile X syndrome National Organization for ...
  8. PDGFRB gene 
    https://medlineplus.gov/genetics/gene/pdgfrb
    ... at birth or in early infancy.Kosaki overgrowth syndrome is characterized by above-average height and large hands and feet. Affected individuals have highly stretchy (elastic) and fragile skin. People with this condition also have distinctive ...
  9. Excluded Studies - Interventions Targeting Sensory Challenges in Children With Autism Spectrum Disorder—An Update - ... 
    https://www.ncbi.nlm.nih.gov/books/NBK448045
    ... Mullett JE, McDougle CJ. Brief report: Acamprosate in fragile X syndrome. Journal of Autism and Developmental Disorders. 2010 November; ... et al. Aripiprazole in autism spectrum disorders and fragile X syndrome. Neurotherapeutics. 2010 July;7(3):258–63. doi: ...
  10. Excluded Studies - Medical Therapies for Children With Autism Spectrum Disorder—An Update - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK448263
    ... Mullett JE, McDougle CJ. Brief report: Acamprosate in fragile X syndrome. Journal of Autism and Developmental Disorders. 2010 November; ... et al. Aripiprazole in autism spectrum disorders and fragile X syndrome. Neurotherapeutics. 2010 July;7(3):258–63. doi: ...
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