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Showing results 1 to 16 of 16

Pub YearTitleAuthor(s)
2010A dominant mesomelic dysplasia associated with a 1.0-Mb microduplication of HOXD gene cluster at 2q31.1.김옥화
1997Atypical skeletal changes in otopalatodigital syndrome type II: phenotypic overlap among otopalatodigital syndrome type II, boomerang dysplasia, atelosteogenesis type I and type III, and lethal male phenotype of Melnick-Needles syndrome.김옥화
2010Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene.김옥화
1997Axial spondylometaphyseal dysplasia.김옥화
2011Axial spondylometaphyseal dysplasia: additional reports.김옥화
2015Case of mild Schmid-type metaphyseal chondrodysplasia with novel sequence variation involving an unusual mutational site of the COL10A1 gene.손영배
2018Craniofacial anomalies associated with spondyloenchondrodysplasia: Two case reports강정현, 이정근
2014Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis.손영배
2012Metaphyseal chondromatosis combined with D-2-hydroxyglutaric aciduria in four patients김옥화
2014Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy김옥화
2010Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.김옥화
2012PAPSS2 mutations cause autosomal recessive brachyolmia김옥화
2011Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes.김옥화
2010Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.김옥화
1998Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutation.김현주
2011Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type.김옥화
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