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American Journal of Medical Genetics Part A, ISSN 1552-4825, 04/2019, Volume 179, Issue 4, pp. 534 - 541
Mutations in the COMP, COL9A1, COL9A2, COL9A3, MATN3, and SLC26A2 genes cause approximately 70% of multiple epiphyseal dysplasia (MED) cases. The genetic... 
novel mutation in COL2A1 | double‐layered patella | multiple epiphyseal dysplasia | double-layered patella | CALVE-PERTHES-DISEASE | GENETICS & HEREDITY | FEMORAL-HEAD | FEATURES | FAMILY | Dysplasia | Genetic aspects | Osteoarthritis | Analysis | Phenotypes | Collagen (type IX) | Etiology | Collagen (type II) | Bone dysplasia | Single-nucleotide polymorphism | Mutation | Hip
Journal Article
Orthopaedics & Traumatology: Surgery & Research, ISSN 1877-0568, 05/2018, Volume 104, Issue 3, pp. 301 - 305
Multiple Ephiphyseal Dysplasia (MED) is a rare autosomal dominant skeletal dysplasia that causes deformation of the epiphysis of the involved joints. The hips... 
Hip dysplasia | Total hip arthroplasty | Multiple ephiphyseal dysplasia | SURVIVAL | SURGERY | CEMENT | FOLLOW-UP | CLASSIFICATION | STEM | REPLACEMENT | DEVELOPMENTAL DYSPLASIA | OSSIFICATION | DWARFISM | ORTHOPEDICS
Journal Article
Revue de Chirurgie Orthopedique et Traumatologique, ISSN 1877-0517, 05/2018, Volume 104, Issue 3, p. 213
Background: Multiple ephiphyseal dysplasia (MED) is a rare autosomal dominant skeletal dysplasia that causes deformation of the epiphysis of the involved... 
Hip dysplasia | Multiple ephiphyseal dysplasia | Total hip arthroplasty
Journal Article
Human Mutation, ISSN 1059-7794, 01/2012, Volume 33, Issue 1, pp. 144 - 157
Journal Article
BMC Medical Genetics, ISSN 1471-2350, 05/2018, Volume 19, Issue 1, pp. 70 - 6
Background: Multiple epiphyseal dysplasia (MED) is a heterogeneous genetic condition characterized by variable phenotypes, such as short stature (mild to... 
Multiple epiphyseal dysplasia | Targeted next-generation sequence | SLC26A2 | Compound heterozygote | SULFATE-TRANSPORTER GENE | CHAIN | PATELLA | DTDST GENE | GENETICS & HEREDITY | PHENOTYPE | Family | Dysplasia | Genetic aspects | Scoliosis | Health aspects | Research
Journal Article
Journal of Pediatric Orthopaedics, ISSN 0271-6798, 10/2014, Volume 34, Issue 7, pp. 738 - 742
Journal Article
JBR-BTR, ISSN 1780-2393, 2017, Volume 101, Issue 1, pp. 1 - 3
Double-layered patella (DLP) is a rare form of bipartite patella, pathognomonic for a certain type of chondrodysplasia, named multiple epiphyseal dysplasia... 
Anterior knee pain | Multipartite | Patella | Double Layered Patella (DLP) | Multiple Epiphyseal Dysplasia (MED) | multipartite | BIPARTITE PATELLA | anterior knee pain | patella | RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING
Journal Article
Journal Article
BMC Musculoskeletal Disorders, ISSN 1471-2474, 03/2014, Volume 15, Issue 1, p. 84
Journal Article