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- Title
A case of Björnstad syndrome caused by novel compound heterozygous mutations in the BCS1L gene.
- Authors
Yanagishita, T.; Sugiura, K.; Kawamoto, Y.; Ito, K.; Marubashi, Y.; Taguchi, N.; Akiyama, M.; Watanabe, D.
- Abstract
The article describes the cases of Japense infants with a hisotry of sparse hair on the head, retarded speech development and a diagnosis of severe sensorineural deafness by auditory brainstem response (ABR). A final diagnosis of Björnstad syndrome was made on the basis of results from clinical examinations of the skin, mucosae, nails, eyes and teeth, laboratory data and DNA analysis. The role of the missense mutation in BCSIL gene in Björnstad syndrome.
- Subjects
SPEECH disorders
- Publication
British Journal of Dermatology, 2014, Vol 170, Issue 4, p970
- ISSN
0007-0963
- Publication type
Article
- DOI
10.1111/bjd.12736