نتایج جستجو برای: klinefelter syndrome

تعداد نتایج: 621989  

Journal: :Indian Journal of Dermatology 2015

Journal: :European Journal of Human Genetics 2007

Journal: :Acta dermato-venereologica 2003
Joachim Dissemond Thomas Schultewolter Tilmann C Brauns Manfred Goos Stephan N Wagner

Sir, Klinefelter’s syndrome, originally described by Klinefelter et al. in 1942 (1), is the most frequent major abnormality of sexual differentiation in men with two or more X-chromosomes. Its prevalence has been estimated at one male birth in 500. The prevalence of leg ulcers as a result of a venous insufficiency in patients with Klinefelter’s syndrome is about 13% (2). The pathogenesis of thi...

Journal: :Stem Cell Research 2021

Abstract Klinefelter Syndrome (KS) is the most common X chromosome aneuploidy in males characterized by highly heterogeneous clinical manifestations including a subtle cognitive impairment and multisystemic disorders such as infertility, metabolic syndrome, gynecomastia cardiovascular diseases. To date dosage-dependent correlation studies of X-linked genes low- high-grade KS phenotypes have not...

Journal: :The Journal of pediatrics 2004
Jeannie Visootsak Beth Rosner Elisabeth Dykens Charles Schwartz Kimberly Hahn Susan M White Roxy Szeftel John M Graham

OBJECTIVE To describe clinical and behavioral features of 10 men from 2 families with Borjeson-Forssman-Lehmann syndrome (BFLS) and missense mutations in the PHF6 zinc-finger transcription factor gene. STUDY DESIGN BFLS behavioral features were compared with other age-matched men with other syndromes and similar intellectual functioning through the use of standardized questionnaires: the Chil...

Journal: :Journal of Clinical Laboratory Analysis 2016

Journal: :The Journal of Clinical Endocrinology & Metabolism 2011

Journal: :Journal of Clinical Case Reports 2015

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