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  • Title: Exclusion of SIX6 hemizygosity in a child with anophthalmia, panhypopituitarism and renal failure.
    Author: Rauchman M, Hoffman WH, Hanna JD, Kulharya AS, Figueroa RE, Yang J, Tuck-Miller CM.
    Journal: Am J Med Genet; 2001 Nov 15; 104(1):31-6. PubMed ID: 11746024.
    Abstract:
    We report a patient who presented with anophthalmia, panhypopituitarism, early onset of end stage renal failure, and craniofacial abnormalities. MRI at age 3 revealed that the pituitary was absent and renal biopsy demonstrated nephronophthisis as the cause of the renal failure. A similar syndrome has been associated with interstitial deletions of chromosome 14q22 and in one case hemizygosity for SIX6 was demonstrated. The patient reported here had a normal karyotype and Southern blot did not reveal loss of one copy of SIX6. We discuss other possible candidate genes that could be implicated in this syndrome.
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