Case Report: Osteosclerotic metaphyseal dysplasia with optic nerve involvement and progressive osteonecrosis of the jaw due to a novel LRRK1 mutation

BACKGROUND: Osteosclerotic metaphyseal dysplasia (OSMD, OMIM 615198) is an extremely rare autosomal recessive osteopetrosis disorder resulting in a distinctive pattern of osteosclerosis of the metaphyseal margins of long tubular bones. To date, only thirteen cases have been reported (eight molecular...

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Detalles Bibliográficos
Autores principales: Pieridou, Chariklia, Sabir, Ataf, Lancashire, Jonathan, Liang, Yifan, McMillan, Kevin, Shaw, Nick, Uday, Suma
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10619726/
https://www.ncbi.nlm.nih.gov/pubmed/37920250
http://dx.doi.org/10.3389/fendo.2023.1258340

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