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....

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Detalles Bibliográficos
Autores principales: Apperley, Louise, Das, Urmi, Ramakrishnan, Renuka, Dharmaraj, Poonam, Blair, Jo, Didi, Mohammed, Senniappan, Senthil
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research
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

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