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Article

Double heterozygous variants in FBN1 and FBN2 in a Thai woman with Marfan and Beals syndromes.

European journal of medical genetics - 1 Sept 2020

Phokaew Chureerat, Sittiwangkul Rekwan, Suphapeetiporn Kanya, Shotelersuk Vorasuk

Abstract excerpt

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 Thai woman with combined clinical features of Marfan (MFS) and Beals (BS) syndromes including frontal bossing, enophthalmos, myopia, the crumpled appearance to the top of the pinnae, midface...

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Source

Identifiers

PMID: 32534992
DOI: 10.1016/j.ejmg.2020.103982

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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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