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Mode of clinical presentation and delayed diagnosis of Turner syndrome: a single Centre UK study
BACKGROUND: Early diagnosis of girls with Turner syndrome (TS) is essential to provide timely intervention and support. The screening guidelines for TS suggest karyotype evaluation in patients presenting with short stature, webbed neck, lymphoedema, coarctation of aorta or ≥ two dysmorphic features....
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6019720/ https://www.ncbi.nlm.nih.gov/pubmed/29983717 http://dx.doi.org/10.1186/s13633-018-0058-1 |