Author/Editor     Stavber, Lana; Hovnik, Tinka; Kotnik, Primož; Lovrečić, Luca; Kovač, Jernej; Tesovnik, Tine; Bertok, Sara; Dovč, Klemen; Debeljak, Maruša; Battelino, Tadej; Avbelj, Magdalena
Title     High frequency of pathogenic ACAN variants including an intragenic deletion in selected individuals with short stature
Type     članek
Vol. and No.     Letnik 182, št. 3
Publication year     2020
Volume     str. 243-253
ISSN     0804-4643 - European journal of endocrinology / European Federation of Endocrine Societies
Language     eng
Keywords     short stature
aggrecan
deletion
exome sequencing