Article

Novel Hemizygous Missense Variation in AFF2 Gene Underlies Fragile XE Syndrome

2020-10-05

Abstract excerpt

<title>Abstract</title> <p><bold>Background: </bold>Fragile XE (FRAXE) is an X-linked recessive condition of intellectual disability affecting 1 in 50,000 new born male. FRAXE is characterized by mild ID, cognitive impairment, speech delay and some cases patients display Autism Spectrum disorder (ASD) like phenotypes. . <bold>Method:</bold> In this study, we investigated a family with two male siblings with neuro...

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Literature Corpus work: 1f8e3706-0c5d-5599-920c-8e6ee43b80b6
DOI: 10.21203/rs.3.rs-42138/v1

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