Homozygous intronic MITF mutation causes severe Waardenburg syndrome type 2A

Rauschendorf MA, Zimmer AD, Laut A, Demmer P, Rosler B, Happle R, Sartori S, Fischer J. Homozygous intronic MITF mutation causes severe Waardenburg syndrome type 2A. Pigment Cell Melanoma Res. 2018 Aug 16. doi: 10.1111/pcmr.12733. [Epub ahead of print].

PubMed ID: 
30117279