Results 1 -
5
of
5
for
Multiple epiphyseal dysplasia 4
- ... radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia. Eur J Hum Genet. 2007 Feb;15(2):150-4. doi: 10.1038/sj.ejhg.5201744. Epub 2006 ...
- ... Steinmann B, Spranger J, Kunze J. Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation. J Med Genet. 1999 Aug;36(8):621-4. Citation on PubMed or Free article on PubMed ...
- ... alpha 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 ...
- ... epiphyseal cartilage architecture. Matrix Biol. 2008 May;27(4):306-18. doi: 10.1016/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 ...
- ... 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 ...