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Article

Two unrelated families with variable expression of Fraser syndrome due to the same pathogenic variant in the FRAS1 gene.

American journal of medical genetics. Part A - 1 Apr 2020

Midro Alina T, Stasiewicz-Jarocka Beata, Borys Jan, Hubert Ewa, Skotnicka Bożena, Hassmann-Poznańska Elżbieta, Sierpińska Teresa, Panasiuk Barbara, Schanze Denny, Zenker Martin

Abstract excerpt

We report on two unrelated families of Polish origin with variable expression of Fraser syndrome (FS; MIM#219000) due to homozygosity for the same pathogenic variant, c.6963_6964dup, of FRAS1. In one family, the disorder presented with perinatal and prenatal lethality. One affected female from family 2 who was followed-up for 32 years, represented a relatively favorable long-term outcome. She displayed the...

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PMID: 31999076
DOI: 10.1002/ajmg.a.61495

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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