Phenotypic similarities and differences in patients with a p.Met112Ile mutation inSOX10

Loss-of-Function Mutations in SOX10 Cause Kallmann Syndrome with Deafness

(2013) Veronique Pingault et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Etiopathological aspects of achalasia: lessons learned with Hirschsprung's disease

(2011) H. R. Gockel et al.   DISEASES OF THE ESOPHAGUS

Identification and functional analysis ofSOX10missense mutations in different subtypes of waardenburg syndrome

(2011) Asma Chaoui et al.   HUMAN MUTATION

Differential Contributions of Rare and Common, Coding and Noncoding Ret Mutations to Multifactorial Hirschsprung Disease Liability

(2010) Eileen Sproat Emison et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Review and update of mutations causing Waardenburg syndrome

(2010) Véronique Pingault et al.   HUMAN MUTATION

Involvement of SOX10 in the pathogenesis of Hirschsprung disease: report of a truncating mutation in an isolated patient

(2010) Avencia Sánchez-Mejías et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Aplasia of cochlear nerves and olfactory bulbs in association withSOX10mutation

(2009) C.P. Barnett et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV

(2008) Matías Morín et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A