MULIBREY Syndrome in a Patient with Wilm's Tumour
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:
Overview
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
Labels
Neonatology Paediatrics General practitioner for children and adolescentsArticle was published in
Czech-Slovak Pediatrics
2002 Issue 9
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