Osteosclerotic metaphyseal dysplasia

Identification of biallelic LRRK1 mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity
Aritoshi Iida, Weirong Xing, Martine K F Docx, Tomoki Nakashima, Zheng Wang, Mamori Kimizuka, Wim Van Hul, Dietz Rating, Jürgen Spranger, Hirohumi Ohashi, Noriko Miyake, Naomichi Matsumoto, Subburaman Mohan, Gen Nishimura, Geert Mortier, Shiro Ikegawa

Journal of Medical Genetics Aug 2016, 53 (8) 568-574; DOI: 10.1136/jmedgenet-2016-103756

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Osteosclerotic metaphyseal dysplasia