Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 Signaling.

doi:10.1016/j.ajhg.2016.06.008

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Article

Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 Signaling.

American journal of human genetics - 4 Aug 2016

Cetinkaya Arda, Xiong Jingwei Rachel, Vargel İbrahim, Kösemehmetoğlu Kemal, Canter Halil İbrahim, Gerdan Ömer Faruk, Longo Nicola, Alzahrani Ahmad, Camps Mireia Perez, Taskiran Ekim Zihni, Laupheimer Simone, Botto Lorenzo D, Paramalingam Eeswari, Gormez Zeliha, Uz Elif, Yuksel Bayram, Ruacan Şevket, Sağıroğlu Mahmut Şamil, Takahashi Tokiharu, Reversade Bruno, Akarsu Nurten Ayse

Abstract excerpt

Vascular malformations are non-neoplastic expansions of blood vessels that arise due to errors during angiogenesis. They are a heterogeneous group of sporadic or inherited vascular disorders characterized by localized lesions of arteriovenous, capillary, or lymphatic origin. Vascular malformations that occur inside bone tissue are rare. Herein, we report loss-of-function mutations in ELMO2 (which translates...

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Identifiers

PMID: 27476657
DOI: 10.1016/j.ajhg.2016.06.008
PMCID: PMC4974086

Genes

ELMO2
RAC1
DOCK1

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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