Authors: L. Lisá; J. Tejnická; G. Scherer; E. Seemanová Authors‘ workplace: 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 Published in: Čes-slov Pediat 2001; (12): 708-710. Category:
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.
Key words: campomelic dysplasia, mutation SOX 9
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