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Mutations in CERS3 Cause Autosomal Recessive Congenital Ichthyosis in Humans
Autosomal recessive congenital ichthyosis (ARCI) is a rare genetic disorder of the skin characterized by abnormal desquamation over the whole body. In this study we report four patients from three consanguineous Tunisian families with skin, eye, heart, and skeletal anomalies, who harbor a homozygous...
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| Main Authors: | , , , , , , , , , , , , |
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| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Public Library of Science
2013
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3675029/ https://ncbi.nlm.nih.gov/pubmed/23754960 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1003536 |
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