Management of a child with a difference in sex development caused by a NR5A1 pathogenic variant

URN:NBN:SI:doc-BLESTX362023Debeljak, MarušaJoao Gaia, MariaKavčič, MojcaKordič, RobertKotnik, PrimožŠuput, Jasnadocuments/doc/B/URN_NBN_SI_doc-BLESTX36_001.pdfdocuments/doc/B/URN_NBN_SI_doc-BLESTX36_001.txt230articlestr. 74-7810.38031/slovpediatr-2023-2-041318-4423167777539URN:NBN:SI:doc-BLESTX36engZdruženje pediatrov SlovenijeZdruženje specialistov šolske in visokošolske medicine SlovenijeSlovenska pediatrijaBY-NCdifferences of sex developmenthumana genetikamotnja v razvoju spolanext-generation sequencingNR5A1sekvencioniranje naslednje generacijeManagement of a child with a difference in sex development caused by a NR5A1 pathogenic variantObravnava otroka z motnjo v razvoju spola, kot posledica patološke variacije v genu NR5A1