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Last Updated: 03/06/2025
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Found 16 publications
Computational biology insights into genotype-clinical phenotype-protein phenotype relationships between novel SLC26A2 variants identified in inherited skeletal dysplasias.
Journal: European journal of medical genetics
Published: April 18, 2022
Diagnosis of a fetus with atelosteogenesis type 2 through combined prenatal ultrasonography and whole exome sequencing
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: July 04, 2020
Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population.
Journal: Clinical genetics
Published: December 16, 2010
A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia.
Journal: Journal of medical genetics
Published: August 19, 2008
Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells.
Journal: Human molecular genetics
Published: August 06, 2004
In vitro proteoglycan sulfation derived from sulfhydryl compounds in sulfate transporter chondrodysplasias.
Journal: Pediatric pathology & molecular medicine
Published: December 25, 2003
Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign.
Journal: American journal of medical genetics. Part A
Published: September 11, 2003
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype.
Journal: Human molecular genetics
Published: July 13, 2001
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance.
Journal: Human mutation
Published: March 10, 2001
Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia.
Journal: American journal of medical genetics
Published: March 08, 2000
Proteoglycan sulfation in cartilage and cell cultures from patients with sulfate transporter chondrodysplasias: relationship to clinical severity and indications on the role of intracellular sulfate production.
Journal: Matrix biology : journal of the International Society for Matrix Biology
Published: November 20, 1998
Last Updated: 03/06/2025