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Article

Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations.

European journal of human genetics : EJHG - 1 Jul 2012

Field Michael, Scheffer Ingrid E, Gill Deepak, Wilson Meredith, Christie Louise, Shaw Marie, Gardner Alison, Glubb Georgie, Hobson Lynne, Corbett Mark, Friend Kathryn, Willis-Owen Saffron, Gecz Jozef

Abstract excerpt

Using a combination of linkage mapping and massively parallel sequencing of the X-chromosome exome, we identified an 18-bp deletion in exon 8 of the oral-facial-digital syndrome type 1 (OFD1) gene in a family with X-linked Joubert syndrome (JBTS10). The deletion results in an in-frame deletion of six amino acids. New features not noted in the two previously reported cases of X-linked Joubert syndrome include the...

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Identifiers

PMID: 22353940
DOI: 10.1038/ejhg.2012.9
PMCID: PMC3376274

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations.PMID 22353940Read ↗

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