Original paper
Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy
Abstract
Intellectual disability (ID) is a heterogeneous clinical entity and includes an excess of males who harbor variants on the X-chromosome (XLID). We report rare FAM50A missense variants in the original Armfield XLID syndrome family localized in Xq28 and four additional unrelated males with overlapping features. Our fam50a knockout (KO) zebrafish model exhibits abnormal neurogenesis and craniofacial patterning, and in vivo complementation assays...
Paper Details
Title
Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy
Published Date
Jul 23, 2020
Journal
Volume
11
Issue
1
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Notes
History