Retinitis pigmentosa,mental retardation,marked short stature,and brachydactyly in two sibs |
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| Authors: | Isabel Lorda-Sanchez Maria Jose Trujillo Ascensión Gimenez Blanca Garcia-Sandoval Angeles Franco Raul Sanz |
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| Affiliation: | Service of Genetics, Ophthalmology, and Radiology, Fundacion Jimenez-Diaz, Madrid, Spain |
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| 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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| Keywords: | coloboma optic nerve |
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