Campomelic Dysplasia
Kampomelická dysplazie
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
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:
Overview
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
Labels
Neonatology Paediatrics General practitioner for children and adolescentsArticle was published in
Czech-Slovak Pediatrics
2001 Issue 12
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