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Sotos syndrome with a novel mutation in the NSD1 gene associated with congenital hypothyroidism
Childhood overgrowth syndromes are relatively rare. A generalized overgrowth syndrome should be suspected when tall stature and macrocephaly are present, after ruling out nutritional excess and endocrinopathies. Sotos syndrome is a well-described overgrowth syndrome due to haploinsufficiency of the...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
King Faisal Specialist Hospital and Research Centre
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8319649/ https://www.ncbi.nlm.nih.gov/pubmed/34350334 http://dx.doi.org/10.1016/j.ijpam.2020.06.001 |