Epidermolysis bullosa, junctional, with pyloric atresia
OMIM:226730Mode of inheritance:Autosomal recessive
Disease classification:Congenital malformations and chromosomal abnormalities
Mutations
| Gene Symbol | ITGB4 |
|---|---|
| DNA Change | 791delC |
| A.A. Change | Frameshift |
| Exon/Intron | exon 7 |
| Mutation Type | deletion |
| Reference | Ruzzi L, Gagnoux-Palacios L, Pinola M, Belli S, Meneguzzi G, D'Alessio M, Zambruno G.A homozygous mutation in the integrin alpha6 gene in junctional epidermolysis bullosa with pyloric atresia. J Clin Invest. 1997 Jun 15;99(12):2826-31. |
Variant not named according to HGVS recommendations