Poikiloderma with neutropenia
OMIM:604173Mode of inheritance:Autosomal recessive
Disease classification:Not elsewhere classified
Mutations
| Gene Symbol | C16orf57 |
|---|---|
| Reference transcript | NM_024598.3 |
| DNA Change | c.179delC |
| A.A. Change | p.Pro60LeufsX55 |
| Exon/Intron | exon 2 |
| Mutation Type | deletion |
| Reference | Mostefai R, Morice-Picard F, Boralevi F, Sautarel M, Lacombe D, Stasia MJ, McGrath J, Taieb A.Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco. Am J Med Genet A. 2008 Nov 1;146A(21):2762-9. |