A splice-site mutation affecting the paired box of PAX3 in a three generation family with Waardenburg syndrome type I (WS1)-Reference-Cited by-同舟云学术

A splice-site mutation affecting the paired box of PAX3 in a three generation family with Waardenburg syndrome type I (WS1)

Published:1997-06 Issue:3 Volume:11 Page:233-236
ISSN:0890-8508
Container-title:Molecular and Cellular Probes
language:en
Short-container-title:Molecular and Cellular Probes

Author:

Attaie Ali,Kim Eugene,Wilcox Edward R.,Lalwani Anil K.

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology

Reference13 articles.

1. A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness;Waardenburg;American Journal of Human Genetics,1951

2. Mendelian Inheritance in Man.;McKusick;Baltimore: Johns Hopkins University Press,1994

3. Assignment of the locus for Waardenburg syndrome type I to human chromosome 2q37 and possible homology to the splotch mouse;Foy;American Journal of Human Genetics,1990

4. Splotch (Sp2H;Epstein;Cell,1991

5. An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome;Baldwin;Nature,1992

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1. First report of Klein-Waardenburg Syndrome in Iran and a novel pathogenic splice site variant in PAX3 gene;International Journal of Pediatric Otorhinolaryngology;2018-10

2. Review and update of mutations causing Waardenburg syndrome;Human Mutation;2010-02-02

3. A novel splice site mutation inEYA4 causes DFNA10 hearing loss;American Journal of Medical Genetics Part A;2007-07-15

4. Pharmacogenetics/genomics and personalized medicine;Human Molecular Genetics;2005-10-15

5. Waardenburg syndrome;Journal of the European Academy of Dermatology and Venereology;2001-07