Anauxetic dysplasia
OMIM:607095Mode of inheritance:Autosomal recessive
Disease classification:Congenital malformations and chromosomal abnormalities
Mutations
| Gene Symbol | POP1 |
|---|---|
| Reference transcript | NM_001145860.1 |
| DNA Change | c.1744C>T |
| A.A. Change | p.Pro582Ser |
| Exon/Intron | exon 13 |
| Mutation Type | substitution |
| Reference | Elalaoui SC, Laarabi FZ, Mansouri M, Mrani NA, Nishimura G, Sefiani A.
Further evidence of POP1 mutations as the cause of anauxetic dysplasia. Am J Med Genet A. 2016 Sep;170(9):2462-5. doi: 10.1002/ajmg.a.37839. Epub 2016 Jul 6. |