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Parental origin of mutations in sporadic cases of Treacher Collins syndrome

✍ Scribed by Splendore, Alessandra; Jabs, Ethylin Wang; Félix, Têmis Maria; Passos-Bueno, Maria Rita

Book ID
110025440
Publisher
Nature Publishing Group
Year
2003
Tongue
English
Weight
109 KB
Volume
11
Category
Article
ISSN
1018-4813

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## Abstract Treacher Collins syndrome (TCS) or mandibulofacial dysostosis is an autosomal dominant disorder of craniofacial development with 60% of its cases arising __de novo__. Other modes of inheritance such as autosomal recessive, gonadal mosaicism, and chromosomal rearrangement have also been