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    Arch Ophthalmol. 1978 Feb;96(2):278-81.

    Retinal involvement in thoracic-pelvic-phalangeal dystrophy.

    Abstract

    A patient with typical thoracic-pelvic-phalangeal dystrophy has survived to the age of 11 years with no pulmonary problem except a single episode of pneumonia at the age of 5 years. She has no evidence of renal disease. An associated ocular lesion resembled Leber's congenital amaurosis clinically but was different on electrophysiologic testing.

    PMID:
    629676
    [PubMed - indexed for MEDLINE]

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