Clinical characteristics and identification of a novel TGFB1 variant in three unrelated Chinese families with Camurati‐Engelmann disease

BACKGROUND: To investigate the clinical characteristics and molecular diagnosis of Camurati‐Engelmann disease (CAEND) in Chinese individuals. METHODS: We recruited six patients aged 14 to 45 years in three unrelated families with CAEND, including five females and one male. Clinical manifestations, b...

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Detalles Bibliográficos
Autores principales: Tao, Xiao‐Hui, Yang, Xing‐Guang, Wang, Zi‐Yuan, Xu, Yang, Lin, Xiao‐Yun, Xu, Tian, Zhang, Zhen‐Lin, Yue, Hua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9034665/
https://www.ncbi.nlm.nih.gov/pubmed/35315241
http://dx.doi.org/10.1002/mgg3.1922

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9034665/
https://www.ncbi.nlm.nih.gov/pubmed/35315241
http://dx.doi.org/10.1002/mgg3.1922

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