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Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux

โœ Scribed by Sanyanusin, Phaikasame; Schimmenti, Lisa A.; McNoe, Leslie A.; Ward, Teresa A.; Pierpont, Mary Ella M.; Sullivan, Michael J.; Dobyns, William B.; Eccles, Michael R.


Book ID
109915698
Publisher
Nature Publishing Group
Year
1995
Tongue
English
Weight
792 KB
Volume
9
Category
Article
ISSN
1061-4036

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## Abstract We describe another patient with the combination of apple peel intestinal atresia, microcephaly, microphthalmia, and anterior eye chamber anomalies. Development so far seems to be normal, although there is major visual impairment due to the corneal clouding. Mutation analysis of the __P