Ichthyosis vulgaris and pycnodysostosis: An unusual occurrence
Pycnodysostosis is a rare autosomal recessive disorder whose generesponsible for this phenotype (CTSK), mapped to human chromosome1q21, code for the enzyme cathepsin K, a lysosomal cysteineprotease; with an estimated incidence of 1.7 per 1 million births. This clinical entity includes micromelic dwa...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Academy of Sciences and Arts of Bosnia and Herzegovina
2012-11-01
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| Series: | Acta Medica Academica |
| Subjects: | |
| Online Access: | http://www.ama.ba/index.php/ama/article/view/154/pdf |