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pro vyhledávání: '"Pierpaolo Pattacini"'
Autor:
Maria Paola Bonasoni, Ave Maria Baffico, Alessandro Ventura, Gabriele Tonni, Pierpaolo Pattacini
Publikováno v:
Journal of Obstetrics and Gynaecology Research. 39:1085-1091
Campomelic dysplasia (CD) is a rare skeletal dysplasia caused by mutation in the SOX9 gene located on chromosome 17q24.3-q25.1, which regulates testis and chondrocyte development. Severe bowing of the long bones was seen at second-trimester scan. DNA