We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
PAPSS2 mutations cause autosomal recessive brachyolmia.
- Authors
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
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 with an AR brachyolmia, with the aim of identifying a disease gene for AR brachyolmia.
- Publication
Journal of medical genetics, 2012, Vol 49, Issue 8, p533
- ISSN
1468-6244
- Publication type
Journal Article
- DOI
10.1136/jmedgenet-2012-101039