Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses

Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses

BackgroundDefects in the development of the first and second pharyngeal arches and their derivatives result in abnormal formation of the craniofacial complex, consequently giving rise to facial dysostoses (FDs). FDs represent a group of rare and highly heterogeneous disease entities that encompass m...

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Bibliographic Details
Main Authors: Ewelina Bukowska-Olech, Anna Materna-Kiryluk, Joanna Walczak-Sztulpa, Delfina Popiel, Magdalena Badura-Stronka, Grzegorz Koczyk, Adam Dawidziuk, Aleksander Jamsheer
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-11-01
Series:Frontiers in Genetics
Subjects:
facial dysostoses
mandibulofacial dysostoses
acrofacial dysostoses
pharyngeal arch
rare diseases
craniofacial development
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2020.580477/full

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https://www.frontiersin.org/articles/10.3389/fgene.2020.580477/full

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