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

• Principais autores: Manogari Chetty (Autor), Imaan Roomaney (Autor), Chandré Oosterwyk (Autor), Noluthando Manyisa (Autor), Christian Domilongo Bope (Autor), Gloudi Agenbag (Autor), Ambroise Wonkam (Autor)
• Formato: Livro
• Publicado em: Nature Publishing Group, 2022-09-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

Abstract 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...