Publication | Open Access

Genetic Mapping to 10q23.3-q24.2, in a Large Italian Pedigree, of a New Syndrome Showing Bilateral Cataracts, Gastroesophageal Reflux, and Spastic Paraparesis with Amyotrophy

Large Italian PedigreeMendelian DisorderOphthalmologyGenetic DisorderGeneticsDisease Gene IdentificationGenetic MappingMedicineGastroesophageal RefluxClinical Genetics