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Epiphyseal "dysplasia," "multiple," 3
- ... Epiphyseal dysplasia, multiple, 1 Epiphyseal dysplasia, multiple, 2 Epiphyseal dysplasia, multiple, 3 Epiphyseal dysplasia, multiple, 4 Epiphyseal dysplasia, multiple, 5 ...
- ... been shown to cause a mild form of multiple epiphyseal dysplasia. All of the mutations change one protein building block (amino acid) within or close to a region of matrilin-3 called the A-domain. One genetic change accounts ...
- ... Tests of COL9A3 PubMed COLLAGEN, TYPE IX, ALPHA-3; COL9A3 NCBI Gene ClinVar Briggs MD, Chapman KL. Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype ...
- ... j.matbio.2007.11.007. Epub 2007 Dec 3. Citation on PubMed Briggs MD, Chapman KL. Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype ...
- ... and diagnostic relevance. Hum Mutat. 2001 Mar;17(3):159-71. doi: 10.1002/humu.1. ... epiphyseal dysplasia with normal stature, club foot, and double layered ...
- ... Gene ClinVar ... and MED phenotypes. J Cell Biochem. 2008 Feb 15;103(3):778-87. doi: 10.1002/jcb.21445. Citation ...
- ... near an area of the gene called exon 3. These mutations in the COL9A2 gene result ... Health Condition MedlinePlus Genetics provides ...
- ... of a group of conditions called chondrodystrophies or ... receptor 3 (FGFR3) gene. This prevents bone growth and mainly ...
- Bone Diseases (National Library of Medicine)Your bones help you move, give you shape and support your body. They are living tissues that rebuild constantly throughout your life. During childhood and ...
- Genetic Disorders (National Library of Medicine)... can also happen during your lifetime. There are three types of genetic disorders: Single-gene disorders, where ...