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Beware of missed diagnosis in patients with multiple genetic diseases: a case report

BACKGROUND: Duchenne muscular dystrophy (DMD) is an X-linked recessive inherited disorder caused by the absence of the Dystrophin protein. Cerebral cavernous malformations (CCMs) are the most common vascular abnormalities in the central nervous system caused by the absence of the products of the CCM...

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Detalles Bibliográficos
Autores principales: Guo, Detong, Li, Xuemei, Liu, Nan, Yu, Xiaoli, Shu, Jianbo, Sheng, Wenchao, Li, Dong, Cai, Chunquan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9297618/
https://www.ncbi.nlm.nih.gov/pubmed/35858850
http://dx.doi.org/10.1186/s12887-022-03490-0