Frontonasal dysplasia
OMIM:136760Mode of inheritance:Sporadic
Disease classification:Congenital malformations and chromosomal abnormalities
Mutations
| Gene Symbol | ALX3 |
|---|---|
| DNA Change | IVS2-2 A>T |
| A.A. Change | |
| Exon/Intron | intron 2 |
| Mutation Type | substitution |
| Reference | Twigg SR, Versnel SL, N?rnberg G, Lees MM, Bhat M, Hammond P, Hennekam RC, Hoogeboom AJ, Hurst JA, Johnson D, Robinson AA, Scambler PJ, Gerrelli D, N?rnberg P, Mathijssen IM, Wilkie AO.Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene. Am J Hum Genet. 2009 May;84(5):698-705. |
Variant not named according to HGVS recommendations