Popliteal pterygium syndrome 1
OMIM:119500Mode of inheritance:Autosomal dominant
Disease classification:Congenital malformations and chromosomal abnormalities
Mutations
| Gene Symbol | IRF6 |
|---|---|
| Reference transcript | NM_006147.3 |
| DNA Change | c.250C>T |
| A.A. Change | p.Arg84Cys |
| Exon/Intron | exon 4 |
| Mutation Type | substitution |
| Reference | Ratbi I, Fejjal N, Legendre M, Collot N, Amselem S, Sefiani A.Clinical and molecular findings in a Moroccan patient with popliteal pterygium syndrome: a case report. J Med Case Rep. 2014 Dec 29;8:471. |