Duplication of 17q11.2 and Features of Albright Hereditary Osteodystrophy Secondary to Methylation Defects within the GNAS Cluster: Coincidence or Causal?

Duplication of 17q11.2 and Features of Albright Hereditary Osteodystrophy Secondary to Methylation Defects within the GNAS Cluster: Coincidence or Causal?

We report a case of Albright hereditary osteodystrophy (AHO) in a three-year-old girl with a microduplication at 17q11.2. The child developed obesity within the first 6 months of life. A diagnosis of Albright was made at age 2 years when biochemical evidence of parathyroid resistance was found. No...

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Bibliographic Details
Main Authors: M. White, J. Conroy, H. Bullman, M. Lever, E. Daly, D. R. Betts, D. Cody, John A. Crolla, S. A. Lynch
Format: Article
Language:English
Published: Hindawi Limited 2013-01-01
Series:Case Reports in Genetics
Online Access:http://dx.doi.org/10.1155/2013/764152

Internet

http://dx.doi.org/10.1155/2013/764152

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