A novel TRPS1 mutation in a Moroccan family with Tricho-rhino-phalangeal syndrome type III: case report
Abstract Background Tricho-rhino-phalangeal syndrome (TRPS) is an autosomal dominant disorder characterized by craniofacial and skeletal malformations including short stature, thin scalp hair, sparse lateral eyebrows, pear-shaped nose and cone shaped epiphyses. This condition is caused by haploinsuf...
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| Main Authors: | , , , , , |
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| Format: | Book |
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BMC,
2017-05-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |