Disease: Seizures mental retardation hair dysplasia
- A new autosomal recessive syndrome of ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities in an inbred Emirati family
- A patient with epilepsy, congenital alopecia and mental retardation: combination of atypical absence in waking and nocturnal partial seizure
- Cardiofaciocutaneous Syndrome
- Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations
- Netherton's syndrome. Current aspects. Apropos of 9 cases
- New clinical findings in oculo-ectodermal syndrome
- Primrose Syndrome
- Wiedemann-Steiner Syndrome