Cargando…
Goltz syndrome in males: A clinical report of a male patient carrying a novel PORCN variant and a review of the literature
Here, we report a novel mosaic mutation in the PORCN gene in a male Goltz syndrome patient. We also compare the phenotypes of all reported males with a confirmed molecular diagnosis. This report serves to further clarify the phenotype of Goltz syndrome and suggests that expression in males varies.
| Autores principales: | , , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2018
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6230642/ https://www.ncbi.nlm.nih.gov/pubmed/30455901 http://dx.doi.org/10.1002/ccr3.1783 |