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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....

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Detalhes bibliográficos
Publicado no:Int J Pediatr Endocrinol
Main Authors: Apperley, Louise, Das, Urmi, Ramakrishnan, Renuka, Dharmaraj, Poonam, Blair, Jo, Didi, Mohammed, Senniappan, Senthil
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2018
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6019720/
https://ncbi.nlm.nih.gov/pubmed/29983717
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13633-018-0058-1
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