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Novel Frameshift Mutation in TRPS1 in a Ukrainian Patient with Trichorhinophalangeal Syndrome Type I
Trichorhinophalangeal syndrome (TRPS) type I is a rare autosomal dominant disorder, caused by mutations in the TRPS1 gene. It is characterized by slowly growing hair, craniofacial manifestations and orthopedic abnormalities. We present a 17-year-old female of Ukrainian origin who presented to the ha...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Medknow Publications & Media Pvt Ltd
2013
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3927178/ https://www.ncbi.nlm.nih.gov/pubmed/24574699 http://dx.doi.org/10.4103/0974-7753.125620 |