Condition: LEBER CONGENITAL AMAUROSIS 15


rs387906836 in TULP1 gene and LEBER CONGENITAL AMAUROSIS 15 PMID 17962469 2007 Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration.

PMID 15024725 2004 Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.