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Article

Phenotypic overlap of McKusick-Kaufman syndrome with bardet-biedl syndrome: a literature review.

American journal of medical genetics - 27 Nov 2000

Slavotinek A M, Biesecker L G

Abstract excerpt

Hydrometrocolpos (HMC) and post-axial polydactyly (PAP) are common to both McKusick-Kaufman syndrome (MKS) and Bardet-Biedl syndrome (BBS). We review reported cases of MKS and BBS presenting with HMC and PAP early in life to determine if there are clinical features that allow discrimination between the two syndromes as the primary features of retinitis pigmentosa, obesity, learning disability in BBS are...

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PMID: 11102925

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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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