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Homozygous intronic MITF mutation causes severe Waardenburg syndrome type 2A.
Rauschendorf MA, Zimmer AD, Laut A, Demmer P, Rösler B, Happle R, Sartori S, Fischer J. Rauschendorf MA, et al. Pigment Cell Melanoma Res. 2019 Jan;32(1):85-91. doi: 10.1111/pcmr.12733. Epub 2018 Sep 6. Pigment Cell Melanoma Res. 2019. PMID: 30117279 No abstract available.
Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans.
Heinz L, Kim GJ, Marrakchi S, Christiansen J, Turki H, Rauschendorf MA, Lathrop M, Hausser I, Zimmer AD, Fischer J. Heinz L, et al. Among authors: rauschendorf ma. Am J Hum Genet. 2017 Jun 1;100(6):926-939. doi: 10.1016/j.ajhg.2017.05.007. Am J Hum Genet. 2017. PMID: 28575648 Free PMC article.