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Article

FTO variant associated with malformation syndrome.

American journal of medical genetics. Part A - 1 Apr 2016

Rohena Luis, Lawson Michelle, Guzman Edwin, Ganapathi Mythily, Cho Megan T, Haverfield Eden, Anyane-Yeboa Kwame

Abstract excerpt

Common FTO variants are associated with obesity. However, it has recently been shown that homozygous FTO c.947G>A variant, which predicts p.R316Q, and c.956C>T, which predicts p.S319F, are associated with a malformation syndrome inherited in an autosomal recessive pattern. We present a similar homozygous FTO c.965G>A variant that predicts p.R322Q, associated with a lethal malformation syndrome in a consanguineous...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26697951
DOI: 10.1002/ajmg.a.37515

Genes

FTO

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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