syndrome Max bbs adult

Bardet-Biedl syndrome BBS is a rare genetic disorder that features retinal degeneration, obesity, polydactyly, learning disabilities and renal abnormalities. In the attempt to shed light on BBS and improve its diagnosis and treatment, we evaluated the genotype-phenotype relationship in patients with a molecular diagnosis of BBS.

adult bbs syndrome Max

adult bbs syndrome Max

adult bbs syndrome Max

adult bbs syndrome Max

Bardet-Biedl syndrome. Renal study Renal function was evaluated in 21 patients. Making sense of cilia in disease: In the six patients we tested, speech audiometry headphones were normal; two patients had difficulty in verbal comprehension.

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adult bbs syndrome Max

adult bbs syndrome Max

adult bbs syndrome Max

adult bbs syndrome Max

In the attempt to shed light on BBS and improve its diagnosis and treatment, we evaluated the genotype-phenotype relationship in patients with a molecular diagnosis of BBS. Also in this case, the variable expressivity of BBS could reflect an epistatic effect of a putative triallelism.

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