Identification of biallelic LRRK1 mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity

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 R...

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Publicado no:J Med Genet
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5769692/
https://ncbi.nlm.nih.gov/pubmed/27055475
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2016-103756
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