نتایج جستجو برای: klinefelter syndrome
تعداد نتایج: 621989 فیلتر نتایج به سال:
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...
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...
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...
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