| Author/Editor | Vrečar, Irena; Rudolf, Gorazd; Peterlin, Borut; Lovrečić, Luca | |
| Title | Brachytelephalangic chondrodysplasia punctata caused by new small hemizygous deletion in a boy presenting with hearing loss | |
| Type | članek | |
| Vol. and No. | , št. Vol. 8 | |
| Publication year | 2015 | |
| ISSN | 1755-8166 - Molecular cytogenetics | |
| Language | eng | |
| Keywords | syndromic hearing loss X-linked chondrodysplasia punctata ARSE CDPX |