Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome

Author:

The Treacher Collins Syndrome Colla ,Dixon Jill,Edwards Sara J.,Gladwin Amanda J.,Dixon Michael J.,Loftus Stacie K.,Bonner Cynthia A.,Koprivnikar Kathryn,Wasmuth John J.

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Reference44 articles.

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2. Gorlin, R.J., Cohen, M.M. & Levin, L.S. Syndromes of the Head and Neck. (Oxford University Press, Oxford, 1990).

3. Treacher Collins, E. Cases with symmetrical congenital notches in the outer part of each lid and defective development of the malar bones. Trans Ophthalmol. Soc. UK. 20, 190–192 (1900).

4. Franceschetti, A. & Klein, D. Mandibulo-facial dysostosis: New hereditary syndrome. Acta Ophthamol. 27, 143–224 (1949).

5. Jones, K.L., Smith, D.W., Harvey, M.A., Hall, B.D. & Quan, L. Older paternal age and fresh gene mutation: data on additional disorders. J. Pediatr. 86, 84–88 (1975).

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