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CZECH MEDICAL ASSOCIATION J. Ev. PURKYNĚ |
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| Česky / Czech version | Čs. Pediat., 56, 2001, No. 12, p. 708-710 |
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Campomelic Dysplasia Lisá L., Tejnická J., Scherer G., Seemanová E. I. dětská klinika 2. LF UK, FN v Motole, Praha, přednosta doc. MUDr. J. Janda, CSc. Institut fiir Humangenetik und Anthropologie, Freiburg, BDR,t přednosta prof. G. Wolff, MD Ustav biologie a lékařské genetiky 2. LF UK, FN v Motole, Praha 5,2 přednosta prof. MUDr. P. Goetz, CSc. |
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Summary: The authors describe a disease caused by mutation of the gene SOX 9. It causes the described anomalies of the reproductive and skeletal system with a smalt thoracic cavity and respiratory insufúciency.
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