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...

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Detalles Bibliográficos
Autores principales: Vieira, Inês, Lopes, Sofia, Bastos, Margarida, Ruas, Luísa, Rodrigues, Dírcea, Paiva, Isabel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2022
Materias:
Unique/Unexpected Symptoms or Presentations of a Disease
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

Internet

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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