Authors: E. Seemanová Authors‘ workplace: Oddělení klinické genetiky Ústavu biologie a lékařské genetiky 2. lékařské fakulty Univerzity Karlovy, Praha, vedoucí MUDr. M. Havlovicová Published in: Čes-slov Pediat 2002; (9): 509-511. Category:
MULIBREY autosomal recessive Syndrome is a multiple malformations disorder. Author reports this disorder diagnosed clinically in a boy, suffering also from Wilms tumour. The detection of mutation in tíunour supressor gene MUL confirmed the correct diagnosis on DNA level and made exact genetic prognosis for proband's Bister and a feasible prevention in her reproduction possible.
Key words: MULIBREY Syndrome, autosomal recessive disorder, homozygous mutation MUL in region 17g22-q23, Wilm's tumor, genetic prognosis and prevention
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