A heterozygous endothelin 3 mutation    in Waardenburg-Hirschsprung    disease: is there a dosage effect of    EDN3/EDNRB gene mutations on    neurocristopathy phenotypes?
Pingault
V
V
Bondurand
N
N
Lemort
N
N
Sancandi
M
M
Ceccherini
I
I
Hugot
J P
JP
Jouk
P S
PS
Goossens
M
M
D000595:Amino Acid Sequence; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics; D019334:Endothelin-3 / Q000235:genetics*; D005192:Family Health; D017809:Fatal Outcome; D005260:Female; D006579:Heterozygote; D006609:High Mobility Group Proteins / Q000235:genetics; D006627:Hirschsprung Disease / Q000235:genetics* / Q000473:pathology; D006720:Homozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009432:Neural Crest / Q000378:metabolism / Q000473:pathology; D010375:Pedigree; D010641:Phenotype; D044023:Receptor, Endothelin B; D017466:Receptors, Endothelin / Q000235:genetics; D055757:SOXE Transcription Factors; D014157:Transcription Factors; D014849:Waardenburg Syndrome / Q000235:genetics* / Q000473:pathology
D004268:DNA-Binding Proteins; D019334:Endothelin-3; D006609:High Mobility Group Proteins; D044023:Receptor, Endothelin B; D017466:Receptors, Endothelin; C527923:SOX10 protein, human; D055757:SOXE Transcription Factors; D014157:Transcription Factors; D004247:DNA