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Phenotype and pathology of the dilated cardiomyopathy with ataxia syndrome in children.
Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration.
PPP1R21-related syndromic intellectual disability: Report of an adult patient and review.
Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3.
Joubert Syndrome and related disorders.