Literature DB >> 30117279

Homozygous intronic MITF mutation causes severe Waardenburg syndrome type 2A.

Marc-Alexander Rauschendorf1, Andreas D Zimmer1, Astrid Laut1, Philipp Demmer1, Bernd Rösler1, Rudolf Happle2, Silvina Sartori3, Judith Fischer1.   

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Year:  2018        PMID： 30117279     DOI： 10.1111/pcmr.12733

Source DB:  PubMed          Journal:  Pigment Cell Melanoma Res        ISSN： 1755-1471            Impact factor:   4.693


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  3 in total

Review 1.  MITF-the first 25 years.

Authors:  Colin R Goding; Heinz Arnheiter
Journal:  Genes Dev       Date:  2019-05-23       Impact factor: 11.361

2.  Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant.

Authors:  Maan Abdullah Albarry; Muhammad Latif; Ahdab Qasem Alreheli; Mohammed A Awadh; Ahmad M Almatrafi; Alia M Albalawi; Sulman Basit
Journal:  PLoS One       Date:  2021-02-11       Impact factor: 3.240

Review 3.  The underestimated role of the microphthalmia-associated transcription factor (MiTF) in normal and pathological haematopoiesis.

Authors:  Alessia Oppezzo; Filippo Rosselli
Journal:  Cell Biosci       Date:  2021-01-13       Impact factor: 7.133
  3 in total

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