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Article

Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes.

European journal of human genetics : EJHG - 1 Jul 2013

Shaheen Ranad, Faqeih Eissa, Alshammari Muneera J, Swaid Abdulrahman, Al-Gazali Lihadh, Mardawi Elham, Ansari Shinu, Sogaty Sameera, Seidahmed Mohammed Z, AlMotairi Muhammed I, Farra Chantal, Kurdi Wesam, Al-Rasheed Shatha, Alkuraya Fowzan S

Abstract excerpt

Meckel-Gruber syndrome (MKS, OMIM #249000) is a multiple congenital malformation syndrome that represents the severe end of the ciliopathy phenotypic spectrum. Despite the relatively common occurrence of this syndrome among Arabs, little is known about its genetic architecture in this population. This is a series of 18 Arab families with MKS, who were evaluated clinically and studied using autozygome-guided...

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Source

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Identifiers

PMID: 23169490
DOI: 10.1038/ejhg.2012.254
PMCID: PMC3722952

Genes

EVC2
EXOC4

Provenance

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Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes.PMID 23169490Read ↗

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