Article
Beware of missed diagnosis in patients with multiple genetic diseases: a case report.
BMC pediatrics - 20 Jul 2022
Guo Detong, Li Xuemei, Liu Nan, Yu Xiaoli, Shu Jianbo, Sheng Wenchao, Li Dong, Cai Chunquan
Abstract excerpt
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...
Topics
- Child
- Exons
- Heterozygote
- Humans
- Male
- Missed Diagnosis
- Muscular Dystrophy, Duchenne
- Mutation
- Exome Sequencing