Irena Vrečar Gorazd Rudolf Borut Peterlin Luca Lovrecic
10.1186/s13039-015-0187-7
Mol Cytogenet
2015 Oct 31;8:83.
arse cdpx1 syndromic hearing loss x-linked chondrodysplasia punctata
CC BY
https://pubmed.ncbi.nlm.nih.gov/26526591/
Case Reports
PMC4628305
26526591
Brachytelephalangic chondrodysplasia punctata caused by new small hemizygous deletion in a boy presenting with hearing loss
2015