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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...

Whakaahuatanga katoa

I tiakina i:
Ngā taipitopito rārangi puna kōrero
Ngā kaituhi matua: Vinayak Y. Kshirsagar, Minhajuddin Ahmed, Suhel Nagarsenkar, Kulmani Sahoo, Kuldeep B. Shah
Hōputu: Artigo
Reo:Inglês
I whakaputaina: Academy of Sciences and Arts of Bosnia and Herzegovina 2012-11-01
Rangatū:Acta Medica Academica
Ngā marau:
Urunga tuihono:http://www.ama.ba/index.php/ama/article/view/154/pdf
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