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Homozygous intronic MITF mutation causes severe Waardenburg syndrome type 2A
Author(s) -
Rauschendorf MarcAlexander,
Zimmer Andreas D.,
Laut Astrid,
Demmer Philipp,
Rösler Bernd,
Happle Rudolf,
Sartori Silvina,
Fischer Judith
Publication year - 2019
Publication title -
pigment cell and melanoma research
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 1.618
H-Index - 105
eISSN - 1755-148X
pISSN - 1755-1471
DOI - 10.1111/pcmr.12733
Subject(s) - microphthalmia associated transcription factor , waardenburg syndrome , mutation , genetics , sox10 , biology , computer science , gene , transcription factor , phenotype