Isolated brachydactyly type E caused by a <it>HOXD13 </it>nonsense mutation: a case report
<p>Abstract</p> <p>Background</p> <p>Brachydactyly type E (BDE; MIM#113300) is characterized by shortening of the metacarpal, metatarsal, and often phalangeal bones, and predominantly affects postaxial ray(s) of the limb. BDE may occur as an isolated trait or as part of...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2012-01-01
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| Series: | BMC Medical Genetics |
| Subjects: | |
| Online Access: | http://www.biomedcentral.com/1471-2350/13/4 |