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

✍ Scribed by Schlump, Jan-Ulrich; Stein, Anja; Hehr, Ute; Karen, Tanja; Möller-Hartmann, Claudia; Elcioglu, Nursel H.; Bogdanova, Nadja; Woike, Hartmut Fritz; Lohmann, Dietmar R.; Felderhoff-Mueser, Ursula; Linz, Annette; Wieczorek, Dagmar

• Book ID: 118785319
• Publisher: Springer
• Year: 2012
• Tongue: English
• Weight: 436 KB
• Volume: 171
• Category: Article
• ISSN: 0340-6997
• DOI: 10.1007/s00431-012-1776-7