Results 1 -
8
of
8
for
Multiple epiphyseal dysplasia 1
- ... Registry: Epiphyseal dysplasia, multiple, 6 Genetic Testing Registry: Multiple epiphyseal dysplasia type 1 Genetic Testing Registry: Multiple epiphyseal dysplasia type 4 ...
- ... This Health Condition cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple) COMP_HUMAN EDM1 EPD1 MED PSACH pseudoachondroplasia (epiphyseal ...
- ... COL9A1 causes the signs and symptoms of dominant multiple epiphyseal dysplasia. More About This Health Condition MedlinePlus Genetics provides information about Stickler syndrome More About This Health Condition alpha 1 type IX collagen cartilage-specific short collagen collagen ...
- ... the less severe signs and symptoms of recessive multiple epiphyseal dysplasia. More About This Health Condition ... PubMed SOLUTE CARRIER ...
- ... Unger S, Zankl A, Briggs MD. Pseudoachondroplasia and multiple epiphyseal dysplasia: ... Hum Mutat. 2012 Jan;33(1):144-57. doi: 10.1002/humu.21611. Epub ...
- ... 3 collagen, type IX, alpha 3 DJ885L7.4.1 EDM3 FLJ90759 IDD 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 ...
- ... COL9A2 gene have been shown to cause dominant multiple epiphyseal dysplasia, a disorder of cartilage and bone development that ... COL9A2 cause the signs and symptoms of dominant multiple epiphyseal dysplasia. More About This Health Condition MedlinePlus Genetics provides ...
- ... been shown to cause a mild form of multiple epiphyseal dysplasia. All of the mutations change one protein building ... Gene ClinVar Briggs MD, Chapman KL. Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype ...