Browsing "Radiology" by Keyword : Phenotype

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Showing results 1 to 8 of 8

Pub YearTitleAuthor(s)
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
2010Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.김옥화
2013Osteogenesis imperfecta type V: clinical and radiographic manifestations in mutation confirmed patients.김옥화
2014Overgrowth syndrome associated with a gain-of-function mutation of the natriuretic peptide receptor 2 (NPR2) gene.김옥화
2012PAPSS2 mutations cause autosomal recessive brachyolmia김옥화
2011Pulmonary manifestations in Proteus syndrome: pulmonary varicosities and bullous lung disease.김옥화
2010TRPV4-pathy, a novel channelopathy affecting diverse systems.김옥화
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