Disease: Yemenite deaf-blind hypopigmentation syndrome
- A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies
- Confirmation of the Yemenite (Warburg) deaf-blind hypopigmentation syndrome
- Functional difference of the SOX10 mutant proteins responsible for the phenotypic variability in auditory-pigmentary disorders
- Pediatric case report: clinical profile of a patient with PCWH with p.Q377X nonsense mutation in the SOX10 gene
- The Yemenite deaf-blind hypopigmentation syndrome. A new oculo-dermato-auditory syndrome