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De novo inv(2)(p12q34) associated with Klippel-Feil anomaly and hypodontia

โœ Scribed by ManolisJ. Papagrigorakis; PhilipposN. Synodinos; ConstandinosP. Daliouris; Caterina Metaxotou


Publisher
Springer
Year
2003
Tongue
English
Weight
229 KB
Volume
162
Category
Article
ISSN
0340-6997

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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