- Acampomelic campomelic dysplasia with SOX9 mutationM K Thong
South Australian Clinical Genetics Service, Women s and Children s Hospital, North Adelaide, South Australia, Australia
Am J Med Genet 93:421-5. 2000..We present a patient with acampomelic CMD1 with a de novo SOX9 missense mutation and report his clinical course to age one year, thereby contributing to genotype-phenotype correlation in CMD1. 2000...