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 |