Treacher Collins Syndrome: Genetics, Clinical Features and Management

Treacher Collins Syndrome: Genetics, Clinical Features and Management

Treacher Collins syndrome (TCS) is associated with abnormal differentiation of the first and second pharyngeal arches, occurring during fetal development. Features of TCS include microtia with conductive hearing loss, slanting palpebral fissures with possibly coloboma of the lateral part of lower ey...

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Bibliographic Details
Main Authors: Bożena Anna Marszałek-Kruk, Piotr Wójcicki, Krzysztof Dowgierd, Robert Śmigiel
Format: Article
Language:English
Published: MDPI AG 2021-09-01
Series:Genes
Subjects:
Treacher Collins syndrome
mandibulofacial dysostosis
phenotype
diagnosis
<i>TCOF1</i> gene
treacle protein
Online Access:https://www.mdpi.com/2073-4425/12/9/1392

Internet

https://www.mdpi.com/2073-4425/12/9/1392

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