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Article

Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome.

European journal of human genetics : EJHG - 1 Apr 2011

Pereiro Ines, Hoskins Bethan E, Marshall Jan D, Collin Gayle B, Naggert Jürgen K, Piñeiro-Gallego Teresa, Oitmaa Eneli, Katsanis Nicholas, Valverde Diana, Beales Philip L

Abstract excerpt

Bardet-Biedl syndrome (BBS; OMIM no. 209 900) and Alström syndrome (ALMS; OMIM no. 203 800) are rare, multisystem genetic disorders showing both a highly variable phenotype and considerable phenotypic overlap; they are included in the emerging group of diseases called ciliopathies. The genetic heterogeneity of BBS with 14 causal genes described to date, serves to further complicate mutational analysis. The...

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Identifiers

PMID: 21157496
DOI: 10.1038/ejhg.2010.207
PMCID: PMC3060323

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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