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New case of “Apple-Peel” intestinal atresia and ocular anomalies with mosaic variegated aneuploidy

✍ Scribed by K.L. Bower; N.R. Dennis; D. Wellesley; C.P.R. Williams; P. Hodgkins; C. Tyreman; C.E. Browne; J.C.K. Barber

Book ID
101450429
Publisher
John Wiley and Sons
Year
2001
Tongue
English
Weight
33 KB
Volume
117A
Category
Article
ISSN
1552-4825

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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