Article
Identification of biallelic LRRK1 mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity.
Journal of medical genetics - 1 Aug 2016
Iida Aritoshi, Xing Weirong, Docx Martine K F, Nakashima Tomoki, Wang Zheng, Kimizuka Mamori, Van Hul Wim, Rating Dietz, Spranger Jürgen, Ohashi Hirohumi, Miyake Noriko, Matsumoto Naomichi, Mohan Subburaman, Nishimura Gen, Mortier Geert, Ikegawa Shiro
Abstract excerpt
BACKGROUND: Osteosclerotic metaphyseal dysplasia (OSMD) is a unique form of osteopetrosis characterised by severe osteosclerosis localised to the bone ends. The mode of inheritance is autosomal recessive. Its genetic basis is not known. OBJECTIVE: To identify the disease gene for OSMD. METHODS AND RESULTS: By whole exome sequencing in a boy with OSMD, we identified a homozygous 7 bp deletion...
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