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3. Waardenburg Syndrome type 1: A case report. Demirci GT; Atıs G; Altunay IK Dermatol Online J; 2011 Nov; 17(11):3. PubMed ID: 22136859 [TBL] [Abstract][Full Text] [Related]
4. Asymmetric choroidal hypopigmentation in a Son and mother with Waardenburg syndrome type I. Grewal PS; Knight H; Michaelides M Ophthalmic Genet; 2020 Jun; 41(3):284-287. PubMed ID: 32281454 [TBL] [Abstract][Full Text] [Related]
5. Molecular and clinical characterization of Waardenburg syndrome type I in an Iranian cohort with two novel PAX3 mutations. Jalilian N; Tabatabaiefar MA; Farhadi M; Bahrami T; Emamdjomeh H; Noori-Daloii MR Gene; 2015 Dec; 574(2):302-7. PubMed ID: 26275939 [TBL] [Abstract][Full Text] [Related]
6. [Unilateral sensineural deafness associated with mutations in the PAX3-gene in Waardenburg syndrome type I]. Ptok M; Morlot S HNO; 2006 Jul; 54(7):557-60. PubMed ID: 16160809 [TBL] [Abstract][Full Text] [Related]
7. A novel mutation in the PAX3 gene causes Waardenburg syndrome type I in an Iranian family. Jalilian N; Tabatabaiefar MA; Farhadi M; Bahrami T; Noori-Daloii MR Int J Pediatr Otorhinolaryngol; 2015 Oct; 79(10):1736-40. PubMed ID: 26279250 [TBL] [Abstract][Full Text] [Related]
8. A novel missense mutation of the paired box 3 gene in a Turkish family with Waardenburg syndrome type 1. Hazan F; Ozturk AT; Adibelli H; Unal N; Tukun A Mol Vis; 2013; 19():196-202. PubMed ID: 23378733 [TBL] [Abstract][Full Text] [Related]
9. Waardenburg syndrome: iris and choroidal hypopigmentation: findings on anterior and posterior segment imaging. Shields CL; Nickerson SJ; Al-Dahmash S; Shields JA JAMA Ophthalmol; 2013 Sep; 131(9):1167-73. PubMed ID: 23868078 [TBL] [Abstract][Full Text] [Related]
10. A novel missense mutation in the PAX3 gene in a case of Waardenburg syndrome type I. Nakamura M; Ishikawa O; Tokura Y J Eur Acad Dermatol Venereol; 2009 Jun; 23(6):708-9. PubMed ID: 18761541 [No Abstract] [Full Text] [Related]
11. Two different PAX3 gene mutations causing Waardenburg syndrome type I. Wildhardt G; Winterpacht A; Hilbert K; Menger H; Zabel B Mol Cell Probes; 1996 Jun; 10(3):229-31. PubMed ID: 8799378 [TBL] [Abstract][Full Text] [Related]
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13. Identification of a novel mutation in the paired domain of PAX3 in an Iranian family with waardenburg syndrome type I. Sotirova VN; Rezaie TM; Khoshsorour MM; Sarfarazi M Ophthalmic Genet; 2000 Mar; 21(1):25-8. PubMed ID: 10779847 [TBL] [Abstract][Full Text] [Related]
14. A splice-site mutation affecting the paired box of PAX3 in a three generation family with Waardenburg syndrome type I (WS1). Attaie A; Kim E; Wilcox ER; Lalwani AK Mol Cell Probes; 1997 Jun; 11(3):233-6. PubMed ID: 9232624 [TBL] [Abstract][Full Text] [Related]
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17. Waardenburg syndrome type 1: a case report of a family with a intragenic PAX3 deletion with no hearing loss or heterochromia of iris. Macaskill L; Reali L; Naik S Clin Dysmorphol; 2024 Jul; 33(3):125-127. PubMed ID: 38411002 [No Abstract] [Full Text] [Related]
18. The value of MLPA in Waardenburg syndrome. Milunsky JM; Maher TA; Ito M; Milunsky A Genet Test; 2007; 11(2):179-82. PubMed ID: 17627390 [TBL] [Abstract][Full Text] [Related]
19. Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations. DeStefano AL; Cupples LA; Arnos KS; Asher JH; Baldwin CT; Blanton S; Carey ML; da Silva EO; Friedman TB; Greenberg J; Lalwani AK; Milunsky A; Nance WE; Pandya A; Ramesar RS; Read AP; Tassabejhi M; Wilcox ER; Farrer LA Hum Genet; 1998 May; 102(5):499-506. PubMed ID: 9654197 [TBL] [Abstract][Full Text] [Related]
20. Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF. Smith SD; Kelley PM; Kenyon JB; Hoover D J Med Genet; 2000 Jun; 37(6):446-8. PubMed ID: 10851256 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]