Deletion of 8q24 in an Adult with Mild Dysmorphic Features, Developmental Delay, and Ketotic Hypoglycemia

We present a 56-year-old female with a history of carbohydrate intolerance and ketotic hypoglycemia, dysmorphic features, mild developmental delay, lymphedema, altered pain sensation, and frequent fractures, who was found to have a heterozygous 8.09 Mb deletion of chromosome 8q24.11q24.13 containing...

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Main Authors: Solomon, Benjamin D., Lange, Eileen, Shubrook, Jay, Service, F. John, Herman, Gail, Karne, Rajaram J., Gorden, Phillip, Muenke, Maximilian, Stratakis, Constantine A.
Format: Artigo
Sprog:Inglês
Udgivet: 2010
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2914310/
https://ncbi.nlm.nih.gov/pubmed/20503333
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33395
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