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17p13.1 Microduplication Syndrome in a Child, Familial Short Stature, and Growth Hormone Deficiency: A Case Report and Review of the Literature
To date, 6 cases of 17p13.1 microduplications have been described in the literature. Intellectual disability is the core feature, together with minor facial dysmorphisms and obesity. We describe the first case of a young patient with a maternally inherited microduplication in 17p13.1 presenting with...
Kaydedildi:
| Yayımlandı: | Mol Syndromol |
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| Asıl Yazarlar: | , , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
S. Karger AG
2019
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6381889/ https://ncbi.nlm.nih.gov/pubmed/30800046 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000494681 |
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