Case Report and Literature Review: Delayed Diagnosis of ARCL1B Due to a Newly Reported Homozygous Mutation C.464a>c P. (tyr155ser) in the EFEMP2 Gene
FRONTIERS IN GENETICS（2024）
关键词
autosomal recessive cutis laxa type 1B,ARCL1B,EFEMP2,heart failure,arterial dysplasia
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