Ophthalmic Genetics · 1984 · 35 citations · 1 references
Life SciencesGeneticsNeurologyHuman GeneticsNeurogeneticsNeuromuscular DisordersGenetic DisordersHereditary NeuropathiesIris DiseaseIris DisordersMendelian Neurological DisordersNeurogenetic DisordersAtaxia SyndromesAutosomal Dominant AtaxiaHereditary Ataxias
Two sisters presenting with a Gillespie's syndrome are reported. This autosomal recessive syndrome is characterized by a circumpupillary aplasia of the iris, non-progressive cerebellar ataxia and oligophrenia.
1
Aniridia, Cerebellar Ataxia, and Oligophrenia in Siblings
Frederick D. Gillespie · Archives of Ophthalmology · 1965 · 93 citations
Medicine, Neurology, Pediatrics +13