Hyaline fibromatosis syndrome
OMIM:228600Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the musculoskeletal system and connective tissue
Mutations
| Gene Symbol | ANTXR2 |
|---|---|
| Reference transcript | NM_058172.5 |
| DNA Change | c.1074delT |
| A.A. Change | p.Ala359Hisfs*50 |
| Exon/Intron | exon 13 |
| Mutation Type | deletion |
| Reference | Jaouad IC, Guaoua S, Hajjioui A, Sefiani A.Hyaline fibromatosis syndrome with mutation c.1074delT of the CMG2 gene: a case report. J Med Case Rep. 2014 Sep 3;8:291. |