SOX10 mutation in Waardenburg syndrome type II.
Iso
Manami
M
Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, Japan.
Fukami
Maki
M
Horikawa
Reiko
R
Azuma
Noriyuki
N
Kawashiro
Nobuko
N
Ogata
Tsutomu
T
D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D006579:Heterozygote; D006609:High Mobility Group Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D055757:SOXE Transcription Factors; D014157:Transcription Factors / Q000235:genetics*; D014849:Waardenburg Syndrome / Q000235:genetics*
D004268:DNA-Binding Proteins; D006609:High Mobility Group Proteins; C527923:SOX10 protein, human; D055757:SOXE Transcription Factors; D014157:Transcription Factors