Fan S, Spence J, Feng Y, Hansen M, Terhorst J, Beltrame M
Cell. 2023; 186(5):923-939.e14.
PMID: 36868214
PMC: 10568978.
DOI: 10.1016/j.cell.2023.01.042.
Oppezzo A, Rosselli F
Cell Biosci. 2021; 11(1):18.
PMID: 33441180
PMC: 7805242.
DOI: 10.1186/s13578-021-00529-0.
Lee T, Lin P, Chen P, Hong J, Wu C
Genes (Basel). 2021; 12(1).
PMID: 33396879
PMC: 7823799.
DOI: 10.3390/genes12010043.
Birtel J, Gliem M, Hess K, Birtel T, Holz F, Zechner U
Genes (Basel). 2020; 11(2).
PMID: 32013026
PMC: 7073860.
DOI: 10.3390/genes11020137.
Parthasarathy A, Cross P, Dobson R, Adams L, Savka M, Hudson A
Front Mol Biosci. 2018; 5:29.
PMID: 29682508
PMC: 5897657.
DOI: 10.3389/fmolb.2018.00029.
Wnt signaling pathway involvement in genotypic and phenotypic variations in Waardenburg syndrome type 2 with MITF mutations.
Wang X, Liu Y, Mei L, He C, Niu Z, Sun J
J Hum Genet. 2018; 63(5):639-646.
PMID: 29531335
PMC: 5915419.
DOI: 10.1038/s10038-018-0425-z.
A Novel Pathogenic Variant in the Gene Segregating with a Unique Spectrum of Ocular Findings in an Extended Iranian Waardenburg Syndrome Kindred.
Jalilian N, Tabatabaiefar M, Bahrami T, Karbasi G, Bahramian M, Salimpoor A
Mol Syndromol. 2017; 8(4):195-200.
PMID: 28690485
PMC: 5498936.
DOI: 10.1159/000476020.
Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness.
George A, Zand D, Hufnagel R, Sharma R, Sergeev Y, Legare J
Am J Hum Genet. 2016; 99(6):1388-1394.
PMID: 27889061
PMC: 5142105.
DOI: 10.1016/j.ajhg.2016.11.004.
MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function.
Grill C, Bergsteinsdottir K, Ogmundsdottir M, Pogenberg V, Schepsky A, Wilmanns M
Hum Mol Genet. 2013; 22(21):4357-67.
PMID: 23787126
PMC: 3888191.
DOI: 10.1093/hmg/ddt285.
Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics.
Wildhardt G, Zirn B, Graul-Neumann L, Wechtenbruch J, Suckfull M, Buske A
BMJ Open. 2013; 3(3).
PMID: 23512835
PMC: 3612789.
DOI: 10.1136/bmjopen-2012-001917.
Hearing dysfunction in heterozygous Mitf(Mi-wh) /+ mice, a model for Waardenburg syndrome type 2 and Tietz syndrome.
Ni C, Zhang D, Beyer L, Halsey K, Fukui H, Raphael Y
Pigment Cell Melanoma Res. 2012; 26(1):78-87.
PMID: 23020089
PMC: 4629244.
DOI: 10.1111/pcmr.12030.
Madarosis: a marker of many maladies.
Kumar A, Karthikeyan K
Int J Trichology. 2012; 4(1):3-18.
PMID: 22628984
PMC: 3358936.
DOI: 10.4103/0974-7753.96079.
Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes.
Leger S, Balguerie X, Goldenberg A, Drouin-Garraud V, Cabot A, Amstutz-Montadert I
Eur J Hum Genet. 2012; 20(5):584-7.
PMID: 22258527
PMC: 3330215.
DOI: 10.1038/ejhg.2011.234.
A MITF mutation associated with a dominant white phenotype and bilateral deafness in German Fleckvieh cattle.
Philipp U, Lupp B, Momke S, Stein V, Tipold A, Eule J
PLoS One. 2011; 6(12):e28857.
PMID: 22174915
PMC: 3236222.
DOI: 10.1371/journal.pone.0028857.
BEST1 expression in the retinal pigment epithelium is modulated by OTX family members.
Esumi N, Kachi S, Hackler Jr L, Masuda T, Yang Z, Campochiaro P
Hum Mol Genet. 2008; 18(1):128-41.
PMID: 18849347
PMC: 2605189.
DOI: 10.1093/hmg/ddn323.
PROFOUND CHILDHOOD DEAFNESS.
Fraser G
J Med Genet. 1964; 1(2):118-51.
PMID: 14234108
PMC: 1012760.
DOI: 10.1136/jmg.1.2.118.
Inherited diseases of the inner ear in man in the light of studies on the mouse.
Deol M
J Med Genet. 1968; 5(2):137-58.
PMID: 4972661
PMC: 1468516.
DOI: 10.1136/jmg.5.2.137.
Genetic mapping of X-linked albinism-deafness syndrome (ADFN) to Xq26.3-q27.I.
Shiloh Y, Litvak G, Ziv Y, Lehner T, Sandkuyl L, Hildesheimer M
Am J Hum Genet. 1990; 47(1):20-7.
PMID: 2349949
PMC: 1683749.
Auditory brainstem response thresholds in a mouse mutant with selective outer hair cell loss.
Schrott A, Stephan K, SPOENDLIN H
Eur Arch Otorhinolaryngol. 1990; 247(1):8-11.
PMID: 2310554
DOI: 10.1007/BF00240940.
