Associated Papers
Case Report: Osteosclerotic metaphyseal dysplasia with optic nerve involvement and progressive osteonecrosis of the jaw due to a novel LRRK1 mutation.
Pieridou C et al.
Frontiers in Endocrinology, 2023
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
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