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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 

Exclusion of SIX6 hemizygosity in a child with anophthalmia, panhypopituitarism and renal failure.

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.[1]

References

  1. Exclusion of SIX6 hemizygosity in a child with anophthalmia, panhypopituitarism and renal failure. Rauchman, M., Hoffman, W.H., Hanna, J.D., Kulharya, A.S., Figueroa, R.E., Yang, J., Tuck-Miller, C.M. Am. J. Med. Genet. (2001) [Pubmed]
 
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