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Article

Mutations in MKKS cause Bardet-Biedl syndrome.

Nature genetics - 1 Sept 2000

Slavotinek A M, Stone E M, Mykytyn K, Heckenlively J R, Green J S, Heon E, Musarella M A, Parfrey P S, Sheffield V C, Biesecker L G

Abstract excerpt

Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder with locus heterogeneity. None of the 'responsible' genes have previously been identified. Some BBS cases (approximately 10%) remain unassigned to the five previously mapped loci. McKusick-Kaufma syndrome (MKS) includes hydrometrocolpos, postaxial polydactyly and congenital heart disease, and is also inherited in an autosomal recessive manner. We...

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Identifiers

PMID: 10973238
DOI: 10.1038/79116

Genes

MKKS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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Mutations in MKKS cause Bardet-Biedl syndrome.PMID 10973238Read ↗

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