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 m...

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Detalles Bibliográficos
Autores principales: White, M., Conroy, J., Bullman, H., Lever, M., Daly, E., Betts, D. R., Cody, D., Crolla, John A., Lynch, S. A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3574658/
https://www.ncbi.nlm.nih.gov/pubmed/23424688
http://dx.doi.org/10.1155/2013/764152

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