Lima Cunha, Dulce

Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan. [electronic resource] - Molecular genetics & genomic medicine 03 2019 - e539 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

2324-9269

10.1002/mgg3.539 doi


ATP-Binding Cassette Transporters--genetics
Adolescent
Child
Cytochrome P-450 Enzyme System--genetics
Female
Genes, Recessive
Genotype
Humans
Ichthyosiform Erythroderma, Congenital--epidemiology
Lipoxygenase--genetics
Male
Mutation Rate
Pakistan
Phenotype
Receptors, Cell Surface--genetics
Saudi Arabia
Transglutaminases--genetics
Young Adult