Treacher Collins Syndrome with a de Novo 5-bp Deletion in the TCOF1 Gene

Treacher Collins Syndrome with a de Novo 5-bp Deletion in the TCOF1 Gene

Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development with features including malar hypoplasia, micrognathia, microtia, downward slanting palpebral fissures, lower eyelid coloboma, conductive hearing loss, and cleft palate. TCS is caused by mutations in the TC...

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Bibliographic Details
Main Authors: Pen-Hua Su, Jia-Yu Chen, Suh-Jen Chen, Ju-Shan Yu
Format: Article
Language:English
Published: Elsevier 2006-01-01
Series:Journal of the Formosan Medical Association
Subjects:
mutation
TCOF1 gene
Treacher Collins syndrome
Online Access:http://www.sciencedirect.com/science/article/pii/S0929664609601947

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http://www.sciencedirect.com/science/article/pii/S0929664609601947

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