Subject Areas on Research
- Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.
- Developmental anomalies of the skin.
- Ectodermal dysplasia: otolaryngologic manifestations and management.
- Quality of life of cutaneous disease in the ectodermal dysplasias.
- Sweating in ectodermal dysplasia syndromes. A review.
- The ophthalmologic manifestations of the cardio-facio-cutaneous syndrome.
- Two novel TP63 mutations associated with the ankyloblepharon, ectodermal defects, and cleft lip and palate syndrome: a skin fragility phenotype.