Exome sequencing as a differential diagnosis tool: resolving mild trichohepatoenteric syndrome

Exome Analysis in Clinical Practice: Expanding the Phenotype of Bartsocas-Papas Syndrome

(2013) Karen W. Gripp et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Syndromic (phenotypic) diarrhoea of infancy/tricho-hepato-enteric syndrome

(2013) A. Fabre et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Syndromic diarrhea/Tricho-hepato-enteric syndrome

(2013) Alexandre Fabre et al.   Orphanet Journal of Rare Diseases

Clinical application of exome sequencing in undiagnosed genetic conditions

(2012) Anna C Need et al.   JOURNAL OF MEDICAL GENETICS

Mutations in TTC37 Cause Trichohepatoenteric Syndrome (Phenotypic Diarrhea of Infancy)

(2010) Jane Louise Hartley et al.   GASTROENTEROLOGY

Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome

(2010) Alexandre Fabre et al.   HUMAN MUTATION