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Article

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

European journal of medical genetics - 1 Jul 2018

Aggarwal Shagun, Das Bhowmik Aneek, Tandon Ashwani, Dalal Ashwin

Abstract excerpt

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 exome sequencing. The de-novo status of these variants is not confirmed as parental genotypes could not be ascertained....

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Source

Identifiers

PMID: 29501612
DOI: 10.1016/j.ejmg.2018.02.009

Genes

FBN1
FBN2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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