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Treacher Collins Syndrome: the genetics of a craniofacial disease.

Authors
  • Kadakia, Sameep1
  • Helman, Samuel N2
  • Badhey, Arvind K2
  • Saman, Masoud3
  • Ducic, Yadranko4
  • 1 Department of Otolaryngology/Head and Neck Surgery, New York Eye and Ear Infirmary, New York, NY, United States. Electronic address: [email protected] , (United States)
  • 2 Albert Einstein College of Medicine, Bronx, NY, United States. , (United States)
  • 3 Department of Otolaryngology/Head and Neck Surgery, New York Eye and Ear Infirmary, New York, NY, United States. , (United States)
  • 4 Department of Facial Plastic and Reconstructive Surgery, University of Texas Southwestern Medical Center, Dallas, TX, United States. , (United States)
Type
Published Article
Journal
International journal of pediatric otorhinolaryngology
Publication Date
Jun 01, 2014
Volume
78
Issue
6
Pages
893–898
Identifiers
DOI: 10.1016/j.ijporl.2014.03.006
PMID: 24690222
Source
Medline
Keywords
License
Unknown

Abstract

Our study codified nascent findings of the molecular determinants of TCS. These findings add to a burgeoning database of TCS-associated mutations, and as such, can be used to establish TCS diagnosis and further clarify TCS pathogenesis.

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