Article
Various types of LRP5 mutations in four patients with osteoporosis-pseudoglioma syndrome: identification of a 7.2-kb microdeletion using oligonucleotide tiling microarray.
American journal of medical genetics. Part A - 1 Jan 2010
Narumi Satoshi, Numakura Chikahiko, Shiihara Takashi, Seiwa Chizuru, Nozaki Yasuyuki, Yamagata Takanori, Momoi Mariko Y, Watanabe Yoriko, Yoshino Makoto, Matsuishi Toyojiro, Nishi Eriko, Kawame Hiroshi, Akahane Tsutomu, Nishimura Gen, Emi Mitsuru, Hasegawa Tomonobu
Abstract excerpt
Osteoporosis-pseudoglioma syndrome (OPS; OMIM 259770) is an autosomal-recessive genetic disorder characterized by severe osteoporosis and visual disturbance from childhood. Biallelic mutations in the low-density lipoprotein receptor-related protein 5 gene (LRP5) have been frequently detected, while a subset of patients had only one or no detectable mutation. We report on the clinical and molecular findings of...
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