Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families.

The autosomal recessive disorder Bardet-Biedl syndrome is characterised by retinal degeneration, polydactyly, obesity, mental retardation, hypogenitalism, renal dysplasia, and short stature. It is heterogeneous with at least four gene loci (BBS1-4) having been mapped to date. We have studied 18 mult...

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Autori principali: Beales, P L, Warner, A M, Hitman, G A, Thakker, R, Flinter, F A
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1997
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050859/
https://ncbi.nlm.nih.gov/pubmed/9039982
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