Short stature, platyspondyly, hip dysplasia, and retinal detachment: an atypical type II collagenopathy caused by a novel mutation in the C-propeptide region of COL2A1: a case report
Crossref DOI link: https://doi.org/10.1186/s12881-016-0357-4
Published Online: 2016-12-12
Published Print: 2016-12
Update policy: https://doi.org/10.1007/springer_crossmark_policy
Sangsin, Apiruk
Srichomthong, Chalurmpon
Pongpanich, Monnat
Suphapeetiporn, Kanya
Shotelersuk, Vorasuk
Funding for this research was provided by:
Thailand Research Fund (RTA 56800003)
License valid from 2016-12-01