Kampomelická dysplazie

Czech version English version

: L. Lisá; J. Tejnická; G. Scherer; E. Seemanová
: 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
: Čes-slov Pediat 2001; (12): 708-710.
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Autoři popisují onemocnění způsobené mutací genu SOX 9. Tím dochází k popsaným anomáliím pohlavního systému a skeletálního systému s malou hrudní dutinou a respirační insuFciencf.

Klíčová slova:
kampomelická dysplazie, mutace SOX 9

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Article was published in

Czech-Slovak Pediatrics

2001 Issue 12