Whole-exome sequencing reveals a novel COL2A1 mutation in a patient with spondyloepiphyseal dysplasia congenita

• Main Authors: Sangsin A., Srichomthong C., Pongpanich M., Suphapeetiporn K., Shotelersuk V.
• Format: Journal
• Published: 2017
• Online Access: https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84961684960&origin=inward; http://cmuir.cmu.ac.th/jspui/handle/6653943832/42027
• Institution: Chiang Mai University

© FUNPEC-RP. Skeletal dysplasia is a group of disorders with more than 450 entities, many of which cannot be differentiated, especially during infancy, but could lead to different clinical courses and prognoses. In this study, we have described a case of a Thai infant with short stature, flat face,...