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Intellectual developmental "disorder," autosomal dominant 72
- ... variants cause a form of the condition called autosomal dominant cutis laxa type 1 (ADCL1), which is characterized ... Urban Z. New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations. ...
- ... Dobyns WB, Subramony SH, Zoghbi HY, Lee CC. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions ...
