Article
[Clinical phenotype and genotype of early-onset facioscapulohumeral muscular dystrophy type 1].
Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 May 2020
Chen X Y, Chang X Z, Fu X N, Ge L, Fan Y B, Liu J Y, Wang Z Q, Zhang W, Xiong H
Abstract excerpt
Objective: To explore the clinical, pathological and genetic characteristics of early-onset facioscapulohumeral muscular dystrophy type 1 (FSHD1), in order to increase awareness of the disease. Methods: In this retrospective study, the history of 3 patients, who were diagnosed with early-onset FSHD1 by molecular genetic test in Pediatric Outpatient Department of Peking University First Hospital from 4(th) June...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.