1. Hirschsprung disease, associated syndromes, and genetics: a review;Amiel;J. Med. Genet.,2001
2. Genetic heterogeneity in the Waardenburg syndrome;Arias;Birth Defects.,1971
3. Apparent non-penetrance for dystopia in Waardenburg syndrome type I, with some hints on the diagnosis of dystopia canthorum;Arias;J. Genet. Hum.,1978
4. A deletion at the SOX10 gene locus causes Waardenburg syndrome types 2 and 4;Bondurand;Am. J. Hum. Genet.,2007
5. Salud Borrego., Macarena Ruiz Ferrer., Raquel M Fernández. Genetic basis of Hirschsprung'disease Chapter 2-Part B., Book:Constipation in Children. Diagnosis and Treatment., Chapter: Genetic Basis of Hirschsprung's Disease, Publisher: Nova Science Publishers Inc, Editors: Núñez-Núñez R, Fabbro A, pp.33–78.