Article
The lymphatic phenotype in Turner syndrome: an evaluation of nineteen patients and literature review.
European journal of human genetics : EJHG - 1 Dec 2015
Atton Giles, Gordon Kristiana, Brice Glen, Keeley Vaughan, Riches Katie, Ostergaard Pia, Mortimer Peter, Mansour Sahar
Abstract excerpt
Turner syndrome is a complex disorder caused by an absent or abnormal sex chromosome. It affects 1/2000-1/3000 live-born females. Congenital lymphoedema of the hands, feet and neck region (present in over 60% of patients) is a common and key diagnostic indicator, although is poorly described in the literature. The aim of this study was to analyse the medical records of a cohort of 19 Turner syndrome patients...
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