Rothmund-Thomson syndrome and osteoma cutis in a patient previously diagnosed as COPS syndrome

We present a patient with poikiloderma, severe osteoporosis and a mild intellectual disability. At the age of 9 years, this patient was proposed to suffer from a novel disease entity designated as calcinosis cutis, osteoma cutis, poikiloderma and skeletal abnormalities (COPS) syndrome. At the age of...

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Detalles Bibliográficos
Autores principales: van Rij, M. C., Grijsen, M. L., Appelman-Dijkstra, N. M., Hansson, K. B. M., Ruivenkamp, C. A. L., Mulder, K., van Doorn, R., Oranje, A. P., Kant, S. G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2016
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5243887/
https://www.ncbi.nlm.nih.gov/pubmed/28039508
http://dx.doi.org/10.1007/s00431-016-2834-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5243887/
https://www.ncbi.nlm.nih.gov/pubmed/28039508
http://dx.doi.org/10.1007/s00431-016-2834-3

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