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A novel TRPS1 mutation in a Moroccan family with Tricho-rhino-phalangeal syndrome type III: case report
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 haploinsufficiency...
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| Gepubliceerd in: | BMC Med Genet |
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| Hoofdauteurs: | , , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
BioMed Central
2017
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5415804/ https://ncbi.nlm.nih.gov/pubmed/28468609 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-017-0413-8 |
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