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Article

A patient with ascending aortic dilatation, similar to phenotypes of connective tissue disorders.

Genetics and molecular research : GMR - 14 Apr 2009

Onrat S T, Emmiler M, Sivaci Y, Söylemez Z, Ozgöz A, Imirzalioğlu N

Abstract excerpt

We report on the clinical and molecular findings of a patient who presented alopecia, epicanthus, micrognathia, retrognathia, high arched palate, hypertelorism, Chiari type I malformation, mixed-type hearing loss but with normal heartbeat Q-T interval, malformed earlobes, down-slanted palpebral fissures, downturned corners of the mouth, syndactyly, atopic eczema, and seizures. The patient was a male adult, 23...

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Identifiers

PMID: 19551629
DOI: 10.4238/vol8-2gmr611

Genes

ACE
MTHFR

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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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