Avtor/Urednik     Paděrová, J.; Holubová, A.; Simandlová, M.; Puchmajerová, A.; Vlčková, M.; Malíková, M.; Pourová, R.; Vejvalková, S.; Maver, Aleš
Naslov     Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring
Tip     članek
Vol. in št.     Letnik 90, št. 3
Leto izdaje     2017
Obseg     str. 230-237
ISSN     0009-9163 - Clinical genetics
Jezik     eng
Proste vsebinske oznake     dominantly inherited disorder
Kabuki syndrome
de novo pathogenic variation
clinical genetics
array CGH
phenotyping
Sanger DNA sequencin