Fibrillin-1 Gene Variant P.gly1754ser Associated with Weill-Marchesani Syndrome Type 2: A Case Report
CUREUS JOURNAL OF MEDICAL SCIENCE（2024）
关键词
insilico analysis,autosomal dominant inheritance,rare skeletal dysplasia,joint stiffness,short stature (ss),acromelic dysplasia,ectopia lentis,exome sequencing,fbn1 gene,weil marchesani syndrome
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