FINCA syndrome—Defining neurobehavioral phenotype in survivors into late childhood
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1899
Abstract: By 2021, 10 cases of fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA, MIM #618278) syndrome have been reported, and five causative variants in the NHLRC2 gene (*618277) have been identified. First reported patients presented with recurrent… read more here.
Keywords: finca syndrome; defining neurobehavioral; phenotype survivors; syndrome defining ... See more keywords
Lynch syndrome: further defining the pediatric spectrum.
Sign Up to like & getrecommendations! Published in 2021 at "Cancer genetics"
DOI: 10.1016/j.cancergen.2021.07.002
Abstract: Lynch syndrome (LS) is an autosomal dominant cancer predisposition syndrome defined molecularly by the presence of a pathogenic heterozygous variant in one of the mismatch repair genes: MLH1, MSH2, MSH6, PMS2, or EPCAM. The incidence of LS… read more here.
Keywords: pediatric spectrum; defining pediatric; syndrome defining; cancer ... See more keywords