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: | Article |
| Language: | English |
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Public Library of Science (PLoS)
2013-06-01
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| Series: | PLoS Genetics |
| Online Access: | http://europepmc.org/articles/PMC3681727?pdf=render |