Double-layered patella in multiple epiphyseal dysplasia is not exclusive toDTDST mutation
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference7 articles.
1. Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W
2. Pseudoachondroplasia and multiple epiphyseal dysplasia: Mutation review, molecular interactions, and genotype to phenotype correlations
3. DOUBLE PATELLAE IN MULTIPLE EPIPHYSIAL DYSPLASIA
4. Identification of Novel pro-α2(IX) Collagen Gene Mutations in Two Families with Distinctive Oligo-Epiphyseal Forms of Multiple Epiphyseal Dysplasia
5. Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in theDTDSTgene: Double-layer patella as a reliable sign
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1. Manejo quirúrgico de la duplicación patelar bilateral en displasia epifisiaria múltiple recesiva. Reporte de caso;Revista Colombiana de Ortopedia y Traumatología;2020-07
2. Exome sequencing reveals a novel COL2A1 mutation implicated in multiple epiphyseal dysplasia;American Journal of Medical Genetics Part A;2019-02-10
3. Skeletal Dysplasias;Genetics of Bone Biology and Skeletal Disease;2018
4. Primary Disorders of Connective Tissue;Textbook of Pediatric Rheumatology;2016
5. Multiple Epiphyseal Dysplasia;Journal of the American Academy of Orthopaedic Surgeons;2015-03
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