Author/Editor		Stopar, M; Dolžan, V; Žerjav-Tanšek, M; Breskvar, K; Kržišnik, C; Battelino, T
Title		Povezave med fenotipom in genotipom pri slovenskih bolnikih s kongenitalno adrenalno hiperplazijo
Translated title		Genotype phenotype correlation in Slovenian patients with congenital adrenal hyperplasia
Type		članek
Source		Slov Pediatr
Vol. and No.		Letnik 7, št. Suppl 1
Publication year		2000
Volume		str. 142-4
Language		slo
Abstract		Frequencies of CYP21 gene mutations in Slovenian patients with congenital adrenal hyperplasia are presented and briefly compared to those of other European nations. Clinical relevance of molecular diagnosis for improvement of the treatment and the final outcome in addition to the possibility of prenatal diagnosis renders genotyping an essential part of routine tertiary medical care.
Summary		V prispevku so orisani nekateri zbirni rezultati genotipizacije slovenskih bolnikov s kongenitalno adrenalno hiperplazijo. Pogostnost posameznih mutacij je podobna kot pri bolnikih drugih evropskih narodov. Poudarjen je klinični pomen povezav med genotipom in fenotipom in vloga zgodnje genotipizacije pri rutinski terciarni obravnavi bolnikov z monogenskimi boleznimi.
Descriptors		ADRENAL HYPERPLASIA, CONGENITAL CHILD POLYMERASE CHAIN REACTION POINT MUTATION