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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...
में बचाया:
| मुख्य लेखकों: | , , , , , , , , |
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| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
2010
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| विषय: | |
| ऑनलाइन पहुंच: | 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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