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1 Possible Causes for Mutation in the Purine Rich Element Binding Protein A Gene

  • Autosomal Dominant Mental Retardation 5

    MOLECULAR BASIS: Caused by mutation in the purine-rich element-binding protein A gene (PURA, 600473.0001) Clinical features A number sign (#) is used with this entry because[] […] of evidence that oculopharyngeal muscular dystrophy (OPMD) is caused by heterozygous mutation in the gene encoding poly(A)-binding protein-2 (PABPN1; 602279) on chromosome[] Hypomyelination; Delayed myelination ENDOCRINE: Gonadotropin-dependent precocious puberty (1 patient) MISCELLANEOUS: Onset at birth or early infancy; Variable severity; De novo mutation[]

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