Identification of a novel <it>de novo </it>mutation in the <it>NIPBL </it>gene in an Iranian patient with Cornelia de Lange syndrome: A case report
<p>Abstract</p> <p>Background</p> <p>Cornelia de Lange syndrome is characterized by dysmorphic facial features, hirsutism, severe growth and developmental delay. Germline mutations in the <it>NIPBL </it>gene with an autosomal dominant pattern and in the <...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2011-06-01
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| Series: | Journal of Medical Case Reports |
| Online Access: | http://www.jmedicalcasereports.com/content/5/1/242 |