1. Dysmorphogenesis of joints, brain and palate: a new dominantly inherited syndrome;Aase;Journal of Pediatrics,1968
2. Le syndrome de Joubert: à propos de 5 observations;Aicardi;Archives Françaises de Pédiatrie,1983
3. Encephalocele (cerebellocele) in the Goldenhar-Gorlin syndrome;Aleksic;European Journal of Pediatrics,1983
4. A familial syndrome of maldevelopment of the brain, polycystic kidneys, congenital tapetoretinal dysplasia with coloboma and unilateral ptosis;Arima;(Japanese.) No to Hattatsu,1971
5. The orofaciodigital (OFD) syndromes;Baraitser;Journal of Medical Genetics,1986