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
An infant with blended phenotype of zellweger spectrum disorder and congenital muscular dystrophy
Sign Up to like & getrecommendations! Published in 2021 at "Annals of Indian Academy of Neurology"
DOI: 10.4103/aian.aian_1108_20
Abstract: We report a newborn born to a consanguineous couple with antenatally detected dilatation of third ventricle, unilateral talipes, and intra uterine growth retardation. On examination, there was facial dysmorphism, hypotonia, encephalopathy, joint laxity and muscle… read more here.
Keywords: blended phenotype; infant blended; muscular dystrophy; congenital muscular ... See more keywords