Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV.
Viñuela
Antonio
A
Unidad de Genética Molecular, Hospital Universitario Ramón y Cajal, Madrid, Spain.
Morín
Matías
M
Villamar
Manuela
M
Morera
Constantino
C
Lavilla
M José
MJ
Cavallé
Laura
L
Moreno-Pelayo
Miguel A
MA
Moreno
Felipe
F
del Castillo
Ignacio
I
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*
D019334:Endothelin-3; C527923:SOX10 protein, human; D055757:SOXE Transcription Factors