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Article

Novel sequence variants in the MKKS gene cause Bardet-Biedl syndrome with intra- and inter-familial variable phenotypes.

Congenital anomalies - 1 Sept 2018

Ullah Asmat, Khalid Maryam, Umair Muhammad, Khan Sher Alam, Bilal Muhammad, Khan Saadullah, Ahmad Wasim

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Share to Bardet-Biedl Syndrome
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29232001
DOI: 10.1111/cga.12264

Genes

MKKS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Novel sequence variants in the MKKS gene cause Bardet-Biedl syndrome with intra- and inter-familial variable phenotypes.PMID 29232001Read ↗

Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients.Semantic proximity Read ↗

[Genetic analysis of novel MKKS variants in a Chinese patient with Bardet-Biedl syndrome].Semantic proximity Read ↗

Expanding the phenotype of Bardet-Biedl syndrome: Newly diagnosed sibling cases.Semantic proximity Read ↗

Delineating the Spectrum of Genetic Variants Associated with Bardet-Biedl Syndrome in Consanguineous Pakistani Pedigrees.Semantic proximity Read ↗

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Sequence variants in different genes underlying Bardet-Biedl syndrome in four consanguineous families.Semantic proximity Read ↗

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

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Whole Exome Sequencing in 11 Iranian Patients Expands the Mutational and Clinical Spectrum of Bardet- Biedl SyndromeSemantic proximity Read ↗

Exome Sequencing in 9 Iranian Patients Expands the Mutational and Clinical Spectrum of Bardet-Biedl Syndrome.Semantic proximity Read ↗

Two sibs with Bardet-Biedl syndrome due to mutations in BBS12: no clues for modulation by a third mutation in BBS10.Semantic proximity Read ↗

Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci.Semantic proximity Read ↗

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