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Hydranencephaly associated with cerebellar involvement and bilateral microphthalmia and colobomas

โœ Scribed by Kishor B. Taori; Kiran M. Sargar; Amit Disawal; Shyam Chhadi; Jawahar Rathod


Publisher
Springer-Verlag
Year
2010
Tongue
English
Weight
224 KB
Volume
41
Category
Article
ISSN
0301-0449

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De novo inv(2)(p21q31) associated with i
โœ Weaver, R. Grey ;Rao, Nagesh ;Thomas, Ioan T. ;Pettenati, Mark J. ๐Ÿ“‚ Article ๐Ÿ“… 1991 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 420 KB

We report on a patient with bilateral microphthalmia and unusual cataracts with a de novo pericentric inversion of chromosome (2)(p21q31). A literature review of previous associations of eye abnormalities and anomalies of chromosome 2 suggests probable gene locations for eye development. ## KEY WOR