Hajdu-Cheney Syndrome: A Novel NOTCH2 Mutation in a Spanish Child in Treatment with Vibrotherapy: A Case Report

A case report of an 11-year-old boy with a de novo variant in NOTCH2 and clinical features characteristic of Hajdu-Cheney syndrome is reported, with acroosteolysis of the distal phalanges of the feet and hands, generalized osteoporosis, musculoskeletal and craniofacial alterations, short stature, bo...

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Detalles Bibliográficos
Autores principales: Cortés-Martín, Jonathan, Díaz-Rodríguez, Lourdes, Piqueras-Sola, Beatriz, Sánchez-García, Juan Carlos, González, Antonio Liñán, Rodríguez-Blanque, Raquel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9457082/
https://www.ncbi.nlm.nih.gov/pubmed/36079132
http://dx.doi.org/10.3390/jcm11175205

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9457082/
https://www.ncbi.nlm.nih.gov/pubmed/36079132
http://dx.doi.org/10.3390/jcm11175205

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