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Li Volti, S. et al.

Li Volti, Faiella, Perrotta, Li Volti, Lama, Bianca, Boncinelli,

Non-allelic heterogeneity in familial unilateral renal adysplasia.

We report three families with dominant unilateral renal adysplasia without vesico-ureteral reflux. No dysmorphia or anomalies were evident in the reproductive system. Ophthalmological examination excluded the presence of optic nerve coloboma or other ocular anomalies. No mutations were detected in the EMX(2) and in PAX(2) genes of affected members. Other homeobox genes could be responsible for this anomaly in these three families.[1]

References

Non-allelic heterogeneity in familial unilateral renal adysplasia. Li Volti, S., Faiella, A., Perrotta, S., Li Volti, G., Lama, G., Bianca, S., Boncinelli, E. Ann. Genet. (2002) [Pubmed]

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