Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families

Bardet Biedl syndrome (BBS) is a recessive rare disorder included in the ciliopathies disease family. The patient´s phenotype is very important in order to go deeper into the physiopathology of the disease. The clinical description of the patients could give us some clues about the pathways that are involved in the disease. Besides,  the more clinical information we have, the more accurate the diagnosis will be, also highlighting non-common BBS features. This approach will be interesting for considering groups of patients candidate for different therapeutical options. (By Dr. Diana Valverde Pérez, http://jmg.bmj.com/content/early/2015/06/16/jmedgenet-2015-103099 )

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