Congenital Arthrogryposis: An Extension of the 15q11.2 BP1-BP2 Microdeletion Syndrome?

The proximal 15q11–q13 region contains 5 breakpoints (BP1–BP5). The BP1-BP2 region spans approximately 500 kb and contains four evolutionarily conserved genes. The genes in this region are known to play a role in central nervous system development and/or function. Microdeletions within the 15q11....

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Bibliographic Details
Main Authors: K. M. Usrey, C. A. Williams, M. Dasouki, L. C. Fairbrother, M. G. Butler
Format: Article
Language:English
Published: Hindawi Limited 2014-01-01
Series:Case Reports in Genetics
Online Access:http://dx.doi.org/10.1155/2014/127258