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Exclusion of Treacher Collins Franceschetti syndrome in a subject with tetralogy of Fallot and cryptorchidism

โœ Scribed by Lida Bruni; Barbara Angeletti; Esterina Pascale; Maria Cristina Tozzi; Paola Giammaria; Roberto Verna; Ettore D'Ambrosio


Book ID
115091791
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
317 KB
Volume
50
Category
Article
ISSN
0009-9163

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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