Skeletal disease in a father and daughter with a novel monoallelic WNT1 mutation

CONTEXT: Most heritable causes of low bone mass in children occur due to mutations affecting type 1 collagen. We describe two related patients with low bone mass and fracture without mutations in the type 1 collagen genes. CASE DESCRIPTION: We describe the index case of a 10-year-old girl with low-i...

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Detalles Bibliográficos
Autores principales: Ang, Kathleen, Sanchez Rangel, Elizabeth, Yuan, Qianying, Wu, Dianqing, Carpenter, Thomas O., Insogna, Karl
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6197702/
https://www.ncbi.nlm.nih.gov/pubmed/30364642
http://dx.doi.org/10.1016/j.bonr.2018.09.001

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6197702/
https://www.ncbi.nlm.nih.gov/pubmed/30364642
http://dx.doi.org/10.1016/j.bonr.2018.09.001

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