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

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...

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Detalles Bibliográficos
Autores principales: Yanagi, Kumiko, Morimoto, Noriko, Iso, Manami, Abe, Yukimi, Okamura, Kohji, Nakamura, Tomoo, Matsubara, Yoichi, Kaname, Tadashi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Singapore 2021
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8472909/
https://www.ncbi.nlm.nih.gov/pubmed/33723370
http://dx.doi.org/10.1038/s10038-021-00915-z

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