Exome sequencing reveals blended phenotype of double heterozygous FBN1 and FBN2 variants in a fetus.
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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