Literature DB >> 4687269

Congenital deafness and Hirschsprung's disease.

V A McKusick.   

Abstract

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Year:  1973        PMID： 4687269     DOI： 10.1056/nejm197303292881321

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  6 in total

1.  Shah Waardenberg syndrome.

Authors:  P R Gupta; S K Chowdhary; K Joshi; R Shukla; K L N Rao
Journal:  Indian J Pediatr       Date:  2002-05       Impact factor: 1.967

2.  Absence of a vagina and right sided adnexa uteri in the Waardenburg syndrome: a possible clue to the embryological defect.

Authors:  R M Goodman; G Oelsner; M Berkenstadt; D Admon
Journal:  J Med Genet       Date:  1988-05       Impact factor: 6.318

3.  Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain.

Authors:  R L Touraine; T Attié-Bitach; E Manceau; E Korsch; P Sarda; V Pingault; F Encha-Razavi; A Pelet; J Augé; A Nivelon-Chevallier; A M Holschneider; M Munnes; W Doerfler; M Goossens; A Munnich; M Vekemans; S Lyonnet
Journal:  Am J Hum Genet       Date:  2000-04-04       Impact factor: 11.025

Review 4.  Intestinal aganglionosis associated with the Waardenburg syndrome: report of two cases and review of the literature.

Authors:  Fumiaki Toki; Norio Suzuki; Ken Inoue; Makoto Suzuki; Kyoko Hirakata; Kyoko Nagai; Minoru Kuroiwa; James R Lupski; Yoshiaki Tsuchida
Journal:  Pediatr Surg Int       Date:  2003-12-23       Impact factor: 1.827

5.  Shah-Waardenburg syndrome.

Authors:  Abdelhalim Mahmoudi; Mohamed Rami; Khalid Khattala; Aziz Elmadi; My Abderrahmane Afifi; Bouabdallah Youssef
Journal:  Pan Afr Med J       Date:  2013-02-12

6.  A Case of Waardenburg-Shah Syndrome Type 4 Presenting with Bilateral Homochromatic Blue Irises from Pakistan.

Authors:  Maira Nusrat; Muhammad Ali Tariq; Saher Aslam; Ahsan Zil-E-Ali; Marwah Shahid; Shafaq Mahmood
Journal:  Cureus       Date:  2018-08-14
  6 in total

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