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...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2022
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Materias: | |
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 |