title: Exome sequencing as a differential diagnosis tool: resolving mild trichohepatoenteric syndrome.
authors.affiliation: Department of Molecular Genetics, Weizmann Institute of Science, Rehovot, Israel.
authors.forename: D
authors.initials: D
authors.lastname: Oz-Levi
authors.forename: B
authors.initials: B
authors.lastname: Weiss
authors.forename: A
authors.initials: A
authors.lastname: Lahad
authors.forename: S
authors.initials: S
authors.lastname: Greenberger
authors.forename: B
authors.initials: B
authors.lastname: Pode-Shakked
authors.forename: R
authors.initials: R
authors.lastname: Somech
authors.forename: T
authors.initials: T
authors.lastname: Olender
authors.forename: P
authors.initials: P
authors.lastname: Tatarsky
authors.forename: D
authors.initials: D
authors.lastname: Marek-Yagel
authors.forename: E
authors.initials: E
authors.lastname: Pras
authors.forename: Y
authors.initials: Y
authors.lastname: Anikster
authors.forename: D
authors.initials: D
authors.lastname: Lancet
mesh_terms: D002352:Carrier Proteins / Q000235:genetics; D002675:Child, Preschool; D003241:Consanguinity; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D003968:Diarrhea, Infantile / Q000175:diagnosis* / Q000235:genetics*; D059472:Exome; D019066:Facies; D005260:Female; D005317:Fetal Growth Retardation / Q000175:diagnosis* / Q000235:genetics*; D005838:Genotype; D006201:Hair Diseases / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D009154:Mutation; D010375:Pedigree; D017422:Sequence Analysis, DNA
chemical_list: D002352:Carrier Proteins; C550452:TTC37 protein, human