Associated Papers
Clinical, genetic aspects and molecular pathogenesis of osteopetrosis.
Nadyrshina DD et al.
Vavilovskii Zhurnal Genetiki I Selektsii, 2023
Adult Osteosclerotic Metaphyseal Dysplasia With Progressive Osteonecrosis of the Jaws and Abnormal Bone Resorption Pattern Due to a LRRK1 Splice Site Mutation.
Howaldt A et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2020
A novel homozygous LRRK1 stop gain mutation in a patient suspected with osteosclerotic metaphyseal dysplasia.
Miryounesi M et al.
Annals of Human Genetics, 2020
Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia.
Guo L et al.
Journal of Human Genetics, 2017
Identification of biallelic LRRK1 mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity.
Iida A et al.
Journal of Medical Genetics, 2016
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