Craniofacial, dental, and molecular features of Pyle disease in a South African child

INTRODUCTION: Pyle Disease (PD), or familial metaphyseal dysplasia [OMIM 265900], is a rare autosomal recessive condition leading to widened metaphyses of long bones and cortical bone thinning and genu valgum. We detail the oro-dental and molecular findings in a South African patient with PD. METHOD...

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Autores principales: Chetty, Manogari, Roomaney, Imaan, Oosterwyk, Chandré, Manyisa, Noluthando, Bope, Christian Domilongo, Agenbag, Gloudi, Wonkam, Ambroise
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9500065/
https://www.ncbi.nlm.nih.gov/pubmed/36138002
http://dx.doi.org/10.1038/s41405-022-00120-w