Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families
Sheila Castro-Sánchez, María Álvarez-Satta, Marta Cortón, Encarna Guillén, Carmen Ayuso, Diana Valverde
Journal of Medical Genetics Aug 2015, 52 (8) 503-513; DOI: 10.1136/jmedgenet-2015-103099