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Article

Homozygous mutation in ELMO2 may cause Ramon syndrome.

Clinical genetics - 1 Mar 2018

Mehawej C, Hoischen A, Farah R A, Marey I, David M, Stora S, Lachlan K, Brunner H G, Mégarbané A

Abstract excerpt

We report on a girl, born to first cousin Lebanese parents, with intellectual disability, seizures, repeated gingivorrhagia, enlarged lower and upper jaws, overgrowth of the gums, high arched and narrow palate, crowded teeth, hirsutism of the back, large abdomen and a small umbilical hernia. Cysts of the mandible, fibrous dysplasia of bones, and enlarged adenoids causing around 60% narrowing of the nasopharyngeal...

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Source

Identifiers

PMID: 29095483
DOI: 10.1111/cge.13166

Genes

ELMO2

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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