Article
Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations.
Human mutation - 1 Oct 2013
Iida Aritoshi, Simsek-Kiper Pelin Özlem, Mizumoto Shuji, Hoshino Touma, Elcioglu Nursel, Horemuzova Eva, Geiberger Stefan, Yesil Gozde, Kayserili Hülya, Utine Gülen Eda, Boduroglu Koray, Watanabe Shigehiko, Ohashi Hirofumi, Alanay Yasemin, Sugahara Kazuyuki, Nishimura Gen, Ikegawa Shiro
Abstract excerpt
Brachyolmia is a heterogeneous skeletal dysplasia characterized by generalized platyspondyly without significant long-bone abnormalities. Based on the mode of inheritance and radiographic features, at least three types of brachyolmia have been postulated. We recently identified an autosomal recessive form of brachyolmia that is caused by loss-of-function mutations of PAPSS2, the gene encoding PAPS...
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