Identification of Variants in ACAN and PAPSS2 Leading to Spondyloepi(meta)physeal Dysplasias in Four Chinese Families.
Molecular Genetics & Genomic Medicine（2022）
Key words
bioinformatie analysis,short stature,spondyloepimetaphyseal dysplasia,spondyloepiphyseal dysplasia,variation,whole-exome sequencing
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