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BMS1 Is Mutated in Aplasia Cutis Congenita
Aplasia cutis congenita (ACC) manifests with localized skin defects at birth of unknown cause, mostly affecting the scalp vertex. Here, genome-wide linkage analysis and exome sequencing was used to identify the causative mutation in autosomal dominant ACC. A heterozygous Arg-to-His missense mutation...
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Public Library of Science
2013
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3681727/ https://www.ncbi.nlm.nih.gov/pubmed/23785305 http://dx.doi.org/10.1371/journal.pgen.1003573 |