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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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Publicat a:Int J Pediatr Endocrinol
Autors principals: Apperley, Louise, Das, Urmi, Ramakrishnan, Renuka, Dharmaraj, Poonam, Blair, Jo, Didi, Mohammed, Senniappan, Senthil
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2018
Matèries:
Accés en línia: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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