Amiel J, Sproat-Emison E, Garcia-Barcelo M, Lantieri F, Burzynski G, Borrego S, Pelet A, Arnold S, Miao X, Griseri P, Brooks AS, Antinolo G, de Pontual L, Clement-Ziza M, Munnich A, Kashuk C, West K, Wong KK, Lyonnet S, Chakravarti A, Tam PK, Ceccherini I, Hofstra RM, Fernandez R. Hirschsprung disease, associated syndromes and genetics: A review. J Med Genet. 2008; 45:1–14.

131

Iso M, Fukami M, Horikawa R, Azuma N, Kawashiro N, Ogata T. (2008) SOX10 mutation in Waardenburg syndrome type II. Am J Med Genet. 2008; 146A:2162–3.

132

Sznajer Y, Coldea C, Meire F, Delpierre I, Sekhara T, Touraine RL. A de novo SOX10 mutation causing severe type 4 Waardenburg syndrome without Hirschsprung disease. Am J Med Genet. 2008; 146A:1038–41.

133

Yang SZ, Cao JY, Zhang RN, Liu LX, Liu X, Zhang X, Kang DY, Li M, Han DY, Yuan HJ, Yang WY. Nonsense mutations in the PAX3 gene cause Waardenburg syndrome type I in two Chinese patients. Chin Med J (Engl). 2007; 120:46–9.

134

Ohtani S, Shinkai Y, Horibe A, Katayama K, Tsuji T, Matsushima Y, Tachibana M, Kunieda T. A Deletion in the Endothelin-B Receptor Gene is Responsible for the Waardenburg SyndromeLike Phenotypes of WS4 Mice. Exp Anim. 2006; 55:491–5.

135

Dixon J, Jones NC, Sandell LL, Jayasinghe SM, Crane J, Rey JP, Dixon MJ, Trainor PA. Tcof1/ Treacle is required for neural crest cell formation and proliferation defciencies that cause craniofacial abnormalities. Proc Natl Acad Sci U S A. 2006; 103:13403–8.

136

Sakai D, Trainor PA. Treacher Collins syndrome: Unmasking the role of Tcof1/treacle. Int J Biochem Cell Biol. 2009; 41:1229–32.

137

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