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Turner syndrome and neurofibromatosis type 1: the unusual combination of two common genetic disorders
SUMMARY: The coexistence of neurofibromatosis type 1 (NFT1) and Turner syndrome (TS) has only been reported in a few patients and may represent a diagnostic challenge. We describe the case of a 16-year-old girl, with a prior clinical diagnosis of NFT1, who was referred to Endocrinology appointments...
Autores principales: | Vieira, Inês, Lopes, Sofia, Bastos, Margarida, Ruas, Luísa, Rodrigues, Dírcea, Paiva, Isabel |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Bioscientifica Ltd
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9422264/ https://www.ncbi.nlm.nih.gov/pubmed/36001006 http://dx.doi.org/10.1530/EDM-22-0226 |
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