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

by Sangsin A., Srichomthong C., Pongpanich M., Suphapeetiporn K., Shotelersuk V.
Published 2017

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 repo...

by Sangsin A., Srichomthong C., Pongpanich M., Suphapeetiporn K., Shotelersuk V.
Published 2017

Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand

by Chaiyasap P., Ittiwut C., Srichomthong C., Sangsin A., Suphapeetiporn K., Shotelersuk V.
Published 2017

Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: A case report

by Sangsin A., Kuptanon C., Srichomthong C., Pongpanich M., Suphapeetiporn K., Shotelersuk V.
Published 2017