Condition: COWDEN SYNDROME 7


rs121918221 in SEC23B gene and COWDEN SYNDROME 7 PMID 21850656 2011 Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population.

PMID 25044164 2014 Retrospective cohort study of 205 cases with congenital dyserythropoietic anemia type II: definition of clinical and molecular spectrum and identification of new diagnostic scores.

PMID 21252497 2011 E109K is a SEC23B founder mutation among Israeli Moroccan Jewish patients with congenital dyserythropoietic anemia type II.

PMID 19561605 2009 Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.

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

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 26522472 2015 Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer.