Painful locking of the wrist in a patient with pseudoachondroplasia confirmed by COMP mutation

We report the case of a 40-year-old woman with pseudoachondroplasia (PSACH), with a heterozygous mutation (c.806A > G, p.Asp269Gly) located in the Type 3 repeats domain of the cartilage oligomeric matrix protein gene, who complained of the unusual symptom of painful locking of the wrist. Her cond...

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Detalles Bibliográficos
Autores principales: Ideta, Hirokazu, Uchiyama, Shigeharu, Hayashi, Masanori, Kosho, Tomoki, Nakamura, Yukio, Kato, Hiroyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5204134/
https://www.ncbi.nlm.nih.gov/pubmed/28044000
http://dx.doi.org/10.1093/jscr/rjw216

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