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Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans
Ichthyoses are a clinically and genetically heterogeneous group of genodermatoses associated with abnormal scaling of the skin over the whole body. Mutations in nine genes are known to cause non-syndromic forms of autosomal-recessive congenital ichthyosis (ARCI). However, not all genetic causes for...
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| Publicado no: | Am J Hum Genet |
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| Main Authors: | , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Elsevier
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5473727/ https://ncbi.nlm.nih.gov/pubmed/28575648 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2017.05.007 |
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