Author/Editor		Stangler Herodež, Špela; Marčun-Varda, Nataša; Kokalj-Vokač, Nadja; Krgović, Danijela
Title		De novo KMT2D heterozygous frameshift deletion in a newborn with a congenital heart anomaly
Type		članek
Vol. and No.		Letnik 23, št. 1
Publication year		2020
Volume		str. 83-90
ISSN		2199-5761 - Balkan journal of medical genetics
Language		eng
Descriptors		Congenital abnormalities Kongenitalne anomalije Genetics Genetika Infant, newborn Novorojenček Heart Srce
Keywords		KMTD2 gene Kabuki syndrome next generation sequencing analysis