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- Title
Bloom syndrome without typical sun-sensitive skin lesions in three Slovak siblings.
- Authors
Vojtková, Jarmila; Čiljaková, Miriam; Jeseňák, Miloš; Mišovicová, Nadežda; Bánovčin, Peter
- Abstract
The article presents a case report of three siblings from Slovakia, suffering with Bloom syndrome which is characterized by growth deficiency of prenatal onset along with telangiectasia, photosensitivity, immunodeficiency, and a high risk of cancer. It describes the syndrome as an autosomal recessive disorder, caused by mutation in the BLM gene.
- Subjects
BLOOM syndrome; GENETIC disorders; GENETIC mutation; TELANGIECTASIA; PHOTOSENSITIVITY
- Publication
International Journal of Dermatology, 2016, Vol 55, Issue 6, p687
- ISSN
0011-9059
- Publication type
Article
- DOI
10.1111/ijd.13009