Cargando…
Barber‐say syndrome: a confirmed case of TWIST2 gene mutation
Barber‐Say syndrome is a rare disorder characterized by hypertrichosis, redundant skin, and facial dysmorphism. TWIST2 gene mutation previously described in this syndrome was identified in our patient. Genetic testing is recommended in patients presenting with these phenotypic abnormalities, along w...
| Autores principales: | , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2017
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5494409/ https://www.ncbi.nlm.nih.gov/pubmed/28680619 http://dx.doi.org/10.1002/ccr3.1014 |