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Article

Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome.

Human molecular genetics - 1 May 2005

Fath Melissa A, Mullins Robert F, Searby Charles, Nishimura Darryl Y, Wei Jun, Rahmouni Kamal, Davis Roger E, Tayeh Marwan K, Andrews Michael, Yang Baoli, Sigmund Curt D, Stone Edwin M, Sheffield Val C

Abstract excerpt

McKusick-Kaufman syndrome (MKS) is an autosomal recessive disorder characterized by post-axial polydactyly, congenital heart defects and hydrometrocolpos, a congenital structural abnormality of female genitalia. Mutations in the MKKS gene have also been shown to cause some cases of Bardet-Biedl syndrome (BBS) which is characterized by obesity, pigmentary retinopathy, polydactyly, renal abnormalities and...

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Source

Identifiers

PMID: 15772095
DOI: 10.1093/hmg/ddi123

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.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome.PMID 15772095Read ↗

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Mutations in MKKS cause Bardet-Biedl syndrome.Semantic proximity Read ↗

Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients.Semantic proximity Read ↗

Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly.Semantic proximity Read ↗

Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes.Semantic proximity Read ↗

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