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  • Title: Congenital hypoparathyroidism, ocular colobomata, unilateral renal agenesis and dysmorphic features.
    Author: Baldellou A, Boné J, Tamparillas M, Rivas A, Pena M, Solsona B.
    Journal: Genet Couns; 1991; 2(4):245-7. PubMed ID: 1799425.
    Abstract:
    A boy with primary hypoparathyroidism and dysmorphic features suggesting a partial DiGeorge sequence is presented. Different possibilities of genetic counseling are considered in the absence of a definitive etiological diagnosis.
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