Article
The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey.
Journal of human genetics - 1 Jan 2015
Ozantürk Ayşegül, Marshall Jan D, Collin Gayle B, Düzenli Selma, Marshall Robert P, Candan Şükrü, Tos Tülay, Esen İhsan, Taşkesen Mustafa, Çayır Atilla, Öztürk Şükrü, Üstün İhsan, Ataman Esra, Karaca Emin, Özdemir Taha Reşid, Erol İlknur, Eroğlu Fehime Kara, Torun Deniz, Parıltay Erhan, Yılmaz-Güleç Elif, Karaca Ender, Atabek M Emre, Elçioğlu Nursel, Satman İlhan, Möller Claes, Muller Jean, Naggert Jürgen K, Özgül Rıza Köksal
Abstract excerpt
Alström syndrome (ALMS) is an autosomal recessive disease characterized by multiple organ involvement, including neurosensory vision and hearing loss, childhood obesity, diabetes mellitus, cardiomyopathy, hypogonadism, and pulmonary, hepatic, renal failure and systemic fibrosis. Alström Syndrome...
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