Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identicalARX gene mutation
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference10 articles.
1. ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation
2. Confirmation of linkage in X-linked infantile spasms (West syndrome) and refinement of the disease locus to Xp21.3-Xp22.1
3. The X-linked infantile spasms syndrome (Mim 308350) maps to Xp 11.4-Xpter in two pedigrees
4. Non-specific X linked mental retardation.
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3. Manifestations of Intellectual Disability, Dystonia, and Parkinson’s Disease in an Adult Patient with ARX Gene Mutation c.558_560dup p.(Pro187dup);Case Reports in Genetics;2023-02-09
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