17p13.1 Microduplication Syndrome in a Child, Familial Short Stature, and Growth Hormone Deficiency: A Case Report and Review of the Literature
| Autor: | Leka-Emiri, S. Petrou, V. Manolakos, E. Thomaidis, L. Fotinou, A. Vlachopapadopoulou, E. Michalacos, S. |
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| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Popis: | 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 growth hormone deficiency. The boy was addressed to the endocrine division for growth retardation (weight and height |
| Databáze: | OpenAIRE |
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