Cargando…
A Syrian patient with Steel syndrome due to compound heterozygous COL27A1 mutations with colobomata of the eye
The joint occurrence of short stature, congenital dislocation of the hip, carpal coalition, dislocation of the radial head, cavus deformity, scoliosis, and vertebral anomalies was first described in 1993 by Steel et al. (OMIM #615155) in 23 children from Puerto Rico. The condition is caused by a def...
| Autores principales: | , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley & Sons, Inc.
2020
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7079147/ https://www.ncbi.nlm.nih.gov/pubmed/31913554 http://dx.doi.org/10.1002/ajmg.a.61478 |