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Treacher Collins syndrome: clinical implications for the paediatrician--a new mutation in a severely affected newborn and comparison with three further patients with the same mutation, and review of the literature.
Schlump JU, Stein A, Hehr U, Karen T, Möller-Hartmann C, Elcioglu NH, Bogdanova N, Woike HF, Lohmann DR, Felderhoff-Mueser U, Linz A, Wieczorek D. Schlump JU, et al. Among authors: woike hf. Eur J Pediatr. 2012 Nov;171(11):1611-8. doi: 10.1007/s00431-012-1776-7. Epub 2012 Jun 23. Eur J Pediatr. 2012. PMID: 22729243 Review.