Related references
Note: Only part of the references are listed.SLC26A2-Associated Diastrophic Dysplasia and rMED-Clinical Features in Affected Finnish Children and Review of the Literature
Helmi Harkonen et al.
GENES (2021)
Recessive multiple epiphyseal dysplasia and Stargardt disease in two sisters
Leonardo Gatticchi et al.
MOLECULAR GENETICS & GENOMIC MEDICINE (2021)
The mutational constraint spectrum quantified from variation in 141,456 humans
Konrad J. Karczewski et al.
NATURE (2020)
Recessive multiple epiphyseal dysplasia - Clinical characteristics caused by rare compound heterozygous SLC26A2 genotypes
Mehran Kausar et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2019)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
A global reference for human genetic variation
David M. Altshuler et al.
NATURE (2015)
Corrections of Lower Limb Deformities in Patients with Diastrophic Dysplasia
Ali Al Kaissi et al.
ORTHOPAEDIC SURGERY (2014)
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
Wenqing Fu et al.
NATURE (2013)
Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population
M. Barbosaa et al.
CLINICAL GENETICS (2011)
New Intermediate Phenotype Between MED and DD Caused by Compound Heterozygous Mutations in the DTDST Gene
Malwina Czarny-Ratajczak et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene - Phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: Case report
Timo Hinrichs et al.
BMC MUSCULOSKELETAL DISORDERS (2010)
Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis
Sheila Unger et al.
BEST PRACTICE & RESEARCH IN CLINICAL RHEUMATOLOGY (2008)
A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasia
Atsushi Miyake et al.
JOURNAL OF HUMAN GENETICS (2008)
Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells
LP Karniski
HUMAN MOLECULAR GENETICS (2004)
Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene:: Double-layer patella as a reliable sign
O Mäkitie et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2003)
Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W
D Ballhausen et al.
JOURNAL OF MEDICAL GENETICS (2003)
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene:: correlation between sulfate transport activity and chondrodysplasia phenotype
LP Karniski
HUMAN MOLECULAR GENETICS (2001)
Sulphate transporter gene mutations in apparently isolated club foot
C Huber et al.
JOURNAL OF MEDICAL GENETICS (2001)