Expanding the spectrum of microdeletion 4q21 syndrome: A partial phenotype with incomplete deletion of the minimal critical region and a new association with cleft palate and pierre robin sequence
Author:
Affiliation:
1. Division of Genetics; The Children's Hospital of Philadelphia; Philadelphia Pennsylvania
2. Department of Human Genetics; University of Chicago; Chicago Illinois
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36061/fullpdf
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3. Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech;Bonnet;J Med Genet,2010
4. Mutation in cGMP-dependent protein kinase II causes dwarfism in a rat mutant KMI through uncoupling of proliferation and differentiation of chondrocytes;Chikuda;J Bone Miner Metab,2005
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