Literature DB >> 1799425

Congenital hypoparathyroidism, ocular colobomata, unilateral renal agenesis and dysmorphic features.

A Baldellou1, J Boné, M Tamparillas, A Rivas, M Pena, B Solsona.   

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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Year:  1991        PMID: 1799425

Source DB:  PubMed          Journal:  Genet Couns        ISSN: 1015-8146


  1 in total

1.  Congenital hypoparathyroidism presenting as recurrent seizures in an adult.

Authors:  Sourya Acharya; Samarth Shukla; Dinesh Singh; Rohit Deshpande; S N Mahajan
Journal:  J Nat Sci Biol Med       Date:  2012-01
  1 in total

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