article_metadata: Chariklia Pieridou Ataf Sabir Jonathan Lancashire Yifan Liang Kevin McMillan Nick Shaw Suma Uday
article_metadata: 10.3389/fendo.2023.1258340
article_metadata: Front Endocrinol (Lausanne)
article_metadata: 2023 Oct 18:14:1258340.
article_metadata: lrrk1 osteomyelitis osteonecrosis osteopetrosis sclerotic dysplasia skeletal dysplasia whole-exome sequencing
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/37920250/
article_metadata: Osteopetrosis / complications Osteopetrosis / genetics Osteosclerosis / complications Osteosclerosis / diagnosis Osteosclerosis / genetics
article_metadata: Osteopetrosis / complications Osteopetrosis / genetics Osteosclerosis / complications Osteosclerosis / diagnosis Osteosclerosis / genetics Case Reports Child Humans Male Mutation Optic Nerve Protein Serine-Threonine Kinases / genetics Ribs Sclerosis Vision Disorders LRRK1 protein, human Protein Serine-Threonine Kinases Pyle disease
article_metadata: PMC10619726
article_metadata: 37920250
article_metadata: Case Report: Osteosclerotic metaphyseal dysplasia with optic nerve involvement and progressive osteonecrosis of the jaw due to a novel LRRK1 mutation
article_metadata: 2023