Spondylometaepiphyseal dysplasia, short limb-hand type
OMIM:271665Mode of inheritance:Autosomal recessive
Disease classification:Congenital malformations and chromosomal abnormalities
Mutations
| Gene Symbol | DDR2 |
|---|---|
| Reference transcript | NM_001014796.1 |
| DNA Change | c.370C>T |
| A.A. Change | p.Arg124Trp |
| Exon/Intron | exon 6 |
| Mutation Type | substitution |
| Reference | Mansouri M, Kayserili H, Elalaoui SC, Nishimura G, Iida A, Lyahyai J, Miyake N, Matsumoto N, Sefiani A, Ikegawa S.
Novel DDR2 mutation identified by whole exome sequencing in a Moroccan patient with spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type. Am J Med Genet A. 2016 Feb;170A(2):460-5. doi: 10.1002/ajmg.a.37426. Epub 2015 Oct 13. |