Exome sequencing reveals blended phenotype of double heterozygous FBN1 and FBN2 variants in a fetus.
Sign Up to like & getrecommendations! Published in 2018 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2018.02.009
Abstract: We report a 29 week fetus with arthrogryposis multiplex congenita, multiple joint dislocations, scoliosis and dysmorphism who was detected to be double heterozygote for putatively pathogenic FBN1 (NM_000138.4:c.6004C > T; p.Pro2002Ser) and FBN2 (NM_001999.3:c.2945G > T; p.Cys982Phe) variants on… read more here.
Keywords: phenotype double; exome sequencing; reveals blended; double heterozygous ... See more keywords
Double heterozygous variants in FBN1 and FBN2 in a Thai woman with Marfan and Beals syndromes.
Sign Up to like & getrecommendations! Published in 2020 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2020.103982
Abstract: A phenotype of an individual is resulted from an interaction among variants in several genes. Advanced molecular technologies allow us to identify more patients with mutations in more than one genes. Here, we studied a… read more here.
Keywords: beals syndromes; fbn1 fbn2; double heterozygous; aortic root ... See more keywords
Double heterozygous pathogenic variants prevalence in a cohort of patients with hereditary breast cancer
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Oncology"
DOI: 10.3389/fonc.2022.873395
Abstract: Hereditary breast cancer (BC) corresponds to 5% of all BC and a larger parcel of early-onset disease. The incorporation of next-generation sequencing (NGS) techniques reduced the cost of molecular testing and allowed the inclusion of… read more here.
Keywords: pathogenic variants; double heterozygous; breast cancer; cancer ... See more keywords