Literature DB >> 24600093

Waardenburg syndrome: A rare case with bilateral congenital cataract: An unusual entity.

Nitin Vichare1, N Bhargava2.   

Abstract

Entities:  

Keywords:  Cataract; Congenital; Waardenburg syndrome

Year:  2012        PMID： 24600093      PMCID： PMC3862869          DOI： 10.1016/j.mjafi.2012.02.017

Source DB:  PubMed          Journal:  Med J Armed Forces India        ISSN： 0377-1237


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  10 in total

Review 1.  Waardenburg syndrome.

Authors:  A L Dourmishev; L A Dourmishev; R A Schwartz; C K Janniger
Journal:  Int J Dermatol       Date:  1999-09       Impact factor: 2.736

Review 2.  Waardenburg syndrome.

Authors:  A P Read; V E Newton
Journal:  J Med Genet       Date:  1997-08       Impact factor: 6.318

Review 3.  Worldwide distribution of Waardenburg syndrome.

Authors:  Chetan S Nayak; Glenn Isaacson
Journal:  Ann Otol Rhinol Laryngol       Date:  2003-09       Impact factor: 1.547

4.  Waardenbrug's syndrome. A variation of the first arch syndrome.

Authors:  B CAMPBELL; N R CAMPBELL
Journal:  Arch Dermatol       Date:  1962-12

5.  Waardenburg syndrome: a report of three cases.

Authors:  Sudip Kumar Ghosh; Debabrata Bandyopadhyay; Arghyaprasun Ghosh; Surajit Kumar Biswas; Rajesh Kumar Mandal
Journal:  Indian J Dermatol Venereol Leprol       Date:  2010 Sep-Oct       Impact factor: 2.545

6.  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.

Authors:  P J WAARDENBURG
Journal:  Am J Hum Genet       Date:  1951-09       Impact factor: 11.025

7.  Clinical and morphological features of Waardenburg syndrome type II.

Authors:  P B Mullaney; M A Parsons; R G Weatherhead; Z A Karcioglu
Journal:  Eye (Lond)       Date:  1998       Impact factor: 3.775

8.  Genetic heterogeneity in the Waardenburg syndrome.

Authors:  S Arias
Journal:  Birth Defects Orig Artic Ser       Date:  1971-03

9.  Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene.

Authors:  M Tassabehji; A P Read; V E Newton; R Harris; R Balling; P Gruss; T Strachan
Journal:  Nature       Date:  1992-02-13       Impact factor: 49.962

10.  Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium.

Authors:  L A Farrer; K M Grundfast; J Amos; K S Arnos; J H Asher; P Beighton; S R Diehl; J Fex; C Foy; T B Friedman
Journal:  Am J Hum Genet       Date:  1992-05       Impact factor: 11.025
  10 in total
  1 in total

1.  Four mutations in MITF, SOX10 and PAX3 genes were identified as genetic causes of waardenburg syndrome in four unrelated Iranian patients: case report.

Authors:  Safoura Zardadi; Sima Rayat; Maryam Hassani Doabsari; Aliagha Alishiri; Mohammad Keramatipour; Zeynab Javanfekr Shahri; Saeid Morovvati
Journal:  BMC Pediatr       Date:  2021-02-08       Impact factor: 2.125
  1 in total

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