Condition: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3


rs121434232 in ALOXE3 gene and ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 PMID 19131948 2009 Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B.

PMID 15629692 2005 Mutations associated with a congenital form of ichthyosis (NCIE) inactivate the epidermal lipoxygenases 12R-LOX and eLOX3.

PMID 19890349 2010 Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients.

PMID 16116617 2005 Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis.

PMID 11773004 2002 Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1.

PMID 25998749 2016 Autosomal recessive congenital ichthyoses in the Czech Republic.

rs121918222 in SEC23B gene and ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 PMID 19561605 2009 Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.

PMID 20015893 2010 Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship.

PMID 19621418 2009 Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene.

PMID 21850656 2011 Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population.