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A case of Björnstad syndrome caused by novel compound heterozygous mutations in theBCS1Lgene

  • Published:2014-04 Issue:4 Volume:170 Page:970-973
  • ISSN:0007-0963
  • Container-title:British Journal of Dermatology
  • language:en
  • Short-container-title:Br J Dermatol

Author:

Yanagishita T.1,Sugiura K.2,Kawamoto Y.3,Ito K.1,Marubashi Y.1,Taguchi N.1,Akiyama M.2,Watanabe D.1

Affiliation:

1. Department of Dermatology; Aichi Medical University School of Medicine; Nagakute Aichi 480-1195 Japan

2. Department of Dermatology; Nagoya University Graduate School of Medicine; 65 Tsurumai-cho Showa-ku Nagoya 466-8500 Japan

3. Department of Biomedical Sciences; College of Life and Health Sciences; Chubu University; Kasugai Aichi 487-8501 Japan

Publisher

Wiley

Subject

Dermatology

Reference9 articles.

1. Pili torti and sensorineural hearing loss. A follow-up of Bjørnstad's original patients and a review of the literature;Selvaag;Eur J Dermatol,2000

2. Björnstad syndrome;Aggarwal;Indian J Pediatr,2004

3. Three members of a family with pili torti and sensorineural hearing loss: the Bjornstad syndrome;Richards;J Am Acad Dermatol,2002

4. A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure;Lonlay;Nat Genet,2001

5. Pili torti with congenital deafness (Bjornstad syndrome): a case report;Loche;Pediatr Dermatol,1999

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