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Article

Double-layered patella in multiple epiphyseal dysplasia is not exclusive to DTDST mutation.

American journal of medical genetics. Part A - 15 Feb 2005

Nakashima Eiji, Ikegawa Shiro, Ohashi Hirofumi, Kimizuka Mamori, Nishimura Gen

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PMID: 15633184
DOI: 10.1002/ajmg.a.30481

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Double-layered patella in multiple epiphyseal dysplasia is not exclusive to DTDST mutation.PMID 15633184Read ↗

Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign.Semantic proximity Read ↗

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.Semantic proximity Read ↗

Multilayered patella: similar radiographic findings in pseudoachondroplasia and recessive multiple epiphyseal dysplasia.Semantic proximity Read ↗

MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia.Semantic proximity Read ↗

Review: clinical variability and genetic heterogeneity in multiple epiphyseal dysplasia.Semantic proximity Read ↗

Serendipitous diagnosis of mild recessive multiple epiphyseal dysplasia through parental-targeted screening test.Semantic proximity Read ↗

Genetics of patella hypoplasia/agenesis.Semantic proximity Read ↗

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.Semantic proximity Read ↗

SLC26A2 disease spectrum in Sweden - high frequency of recessive multiple epiphyseal dysplasia (rMED).Semantic proximity Read ↗

Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene.Semantic proximity Read ↗

Human syndromes with congenital patellar anomalies and the underlying gene defects.Semantic proximity Read ↗

Homozygosity for a DTDST mutation in a child with multiple epiphyseal dysplasia.Semantic proximity Read ↗

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