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Article

A novel missense variant of the GNAI3 gene and recognisable morphological characteristics of the mandibula in ARCND1.

Journal of human genetics - 1 Oct 2021

Yanagi Kumiko, Morimoto Noriko, Iso Manami, Abe Yukimi, Okamura Kohji, Nakamura Tomoo, Matsubara Yoichi, Kaname Tadashi

Abstract excerpt

Auriculocondylar syndrome (ARCND) is an autosomal monogenic disorder characterised by external ear abnormalities and micrognathia due to hypoplasia of the mandibular rami, condyle and coronoid process. Genetically, three subtypes of ARCND (ARCND1, ARCND2 and ARCND3) have been reported. To date, five pathogenic variants of GNAI3 have been reported in ARCND1 patients. Here, we report a novel variant of GNAI3...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33723370
DOI: 10.1038/s10038-021-00915-z
PMCID: PMC8472909

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