Article
Differences in the clinical spectrum of two adolescent male patients with Alström syndrome.
Clinical dysmorphology - 1 Jan 2013
Kuburović Vladimir, Marshall Jan D, Collin Gayle B, Nykamp Keith, Kuburović Nina, Milenković Tatjana, Rakić Sanja, Djuric Milena, Ječmenica Jovana, Milenković Svetislav, Naggert Jürgen K
Abstract excerpt
Alström syndrome is a rare disorder typified by early childhood obesity, neurosensory deficits, cardiomyopathy, progressive renal and hepatic dysfunction, and endocrinological features such as severe insulin resistance, type 2 diabetes, hyperlipidemia, and hypogonadism. Widespread fibrosis leads to multiple organ failure. Mutations in ALMS1 cause Alström syndrome. Two age-matched, unrelated adolescent males of...
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