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Article

Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia.

Journal of human genetics - 1 Mar 2017

Guo Long, Girisha Katta M, Iida Aritoshi, Hebbar Malavika, Shukla Anju, Shah Hitesh, Nishimura Gen, Matsumoto Naomichi, Nismath Shifa, Miyake Noriko, Ikegawa Shiro

Abstract excerpt

Osteosclerotic metaphyseal dysplasia (OSMD) is a rare skeletal dysplasia characterized by osteosclerotic metaphyses with osteopenic diaphyses of the long tubular bones. Our previous study identified a homozygous elongation mutation in leucine-rich repeat kinase 1 gene (LRRK1) in a patient with OSMD and showed that Lrrk1 knockout mice exhibited phenotypic similarity with OSMD. Here we report a second LRRK1...

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PMID: 27829680
DOI: 10.1038/jhg.2016.136

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

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