title: Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV.
authors.affiliation: Unidad de Genética Molecular, Hospital Universitario Ramón y Cajal, Madrid, Spain.
authors.forename: Antonio
authors.initials: A
authors.lastname: Viñuela
authors.forename: Matías
authors.initials: M
authors.lastname: Morín
authors.forename: Manuela
authors.initials: M
authors.lastname: Villamar
authors.forename: Constantino
authors.initials: C
authors.lastname: Morera
authors.forename: M José
authors.initials: MJ
authors.lastname: Lavilla
authors.forename: Laura
authors.initials: L
authors.lastname: Cavallé
authors.forename: Miguel A
authors.initials: MA
authors.lastname: Moreno-Pelayo
authors.forename: Felipe
authors.initials: F
authors.lastname: Moreno
authors.forename: Ignacio
authors.initials: I
authors.lastname: del Castillo
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D003241:Consanguinity; D004252:DNA Mutational Analysis; D019334:Endothelin-3 / Q000235:genetics; D018740:Genetic Heterogeneity; D005838:Genotype; D006627:Hirschsprung Disease / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D008297:Male; D008954:Models, Biological; D008969:Molecular Sequence Data; D010375:Pedigree; D010641:Phenotype; D055757:SOXE Transcription Factors / Q000235:genetics; D014849:Waardenburg Syndrome / Q000145:classification / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D019334:Endothelin-3; C527923:SOX10 protein, human; D055757:SOXE Transcription Factors