Article
PAPSS2 mutations cause autosomal recessive brachyolmia.
Journal of medical genetics - 1 Aug 2012
Miyake Noriko, Elcioglu Nursel H, Iida Aritoshi, Isguven Pinar, Dai Jin, Murakami Nobuyuki, Takamura Kazuyuki, Cho Tae-Joon, Kim Ok-Hwa, Hasegawa Tomonobu, Nagai Toshiro, Ohashi Hirofumi, Nishimura Gen, Matsumoto Naomichi, Ikegawa Shiro
Abstract excerpt
BACKGROUND: Brachyolmia is a heterogeneous group of skeletal dysplasias that primarily affects the spine. Clinical and genetic heterogeneity have been reported; at least three types of brachyolmia are known. TRPV4 mutations have been identified in an autosomal dominant form of brachyolmia; however, disease genes for autosomal recessive (AR) forms remain totally unknown. We conducted a study on a Turkish family...
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