Variable Expressivity of Wolfram Syndrome in a Family with Multiple Affected Subjects.
Purpose: To study the genetic basis and clinical manifestations of Wolfram syndrome in a multi-affected family. Methods: Complete clinical examinations including urological, ophthalmic, neurological, and endocrinologic assessment were performed for three affected family members. Genomic DNA was extr...
| Publicado en: | Journal of Ophthalmic & Vision Research Vol. 16; no. 4; pp. 602 - 611 |
|---|---|
| Autores principales: | , , , , |
| Formato: | case study diagnostic images pictorial tables/charts Journal Article |
| Publicado: |
Knowledge E DMCC
Oct-Dec2021
|
| Acceso en línea: | Ver este registro en EBSCOhost |