A novel nonsense mutation in CHST3 in a Turkish patient with spondyloepiphyseal dysplasia, Omani type

Clin Dysmorphol. 2020 Jan;29(1):61-64. doi: 10.1097/MCD.0000000000000295.

Affiliations

¹ Department of Medical Genetics, Medical School of Pamukkale University.
² Division of Pediatric Endocrinology, Department of Pediatrics, Medical School of Pamukkale University.
³ Department of Radiology, Medical School of Pamukkale University, Denizli, Turkey.

PMID: 31567425
DOI: 10.1097/MCD.0000000000000295

No abstract available

Publication types

Case Reports

MeSH terms

Carbohydrate Sulfotransferases
Child
Codon, Nonsense*
Female
Humans
Osteochondrodysplasias* / genetics
Osteochondrodysplasias* / pathology
Sulfotransferases / genetics*
Turkey

Substances

Codon, Nonsense
Sulfotransferases

Supplementary concepts

Spondyloepiphyseal dysplasia, Omani type