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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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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Public Library of Science
2013
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| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3681727/ https://ncbi.nlm.nih.gov/pubmed/23785305 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1003573 |
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