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  • Title: Retinitis pigmentosa, mental retardation, marked short stature, and brachydactyly in two sibs.
    Author: Lorda-Sanchez I, Trujillo MJ, Gimenez A, Garcia-Sandoval B, Franco A, Sanz R, Rodriguez de Alba M, Ramos C, Ayuso C.
    Journal: Ophthalmic Genet; 1999 Jun; 20(2):127-31. PubMed ID: 10420199.
    Abstract:
    We present two siblings with retinitis pigmentosa, mental retardation, markedly short stature, and brachydactyly. This association of clinical findings appears to be distinct from previously described syndromes and seems to represent the pleiotropic effects of a single autosomal recessive gene.
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