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...
| Main Authors: | , , , , , , , , |
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| Format: | Online |
| Language: | English |
| Published: |
Hindawi Publishing Corporation
2013
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3574658/ |