PMID 22353940 2012 Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations.
PMID 19800048 2009 OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.
PMID 22619378 2012 Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23).
PMID 19396822 2009 Are the oral-facial-digital syndromes ciliopathies?
PMID 23033313 2013 Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.
PMID 27081566 2016 Exome sequencing identifies a mutation in OFD1 in a male with Joubert syndrome, orofaciodigital spectrum anomalies and complex polydactyly.
PMID 24884629 2014 CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study.
PMID 19876934 2009 The molecular basis of oral-facial-digital syndrome, type 1.
PMID 16311594 2006 Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification.
PMID 15466260 2004 OFD1 is a centrosomal/basal body protein expressed during mesenchymal-epithelial transition in human nephrogenesis.
PMID 10892847 2000 Evidence for a new locus for X-linked retinitis pigmentosa (RP23).
PMID 16783569 2006 A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome.
PMID 25238977 2014 Simpson-Golabi-Behmel syndrome types I and II.
rs1555907034 in
OFD1 gene and
Muscle hypotonia
PMID 27081566 2016 Exome sequencing identifies a mutation in OFD1 in a male with Joubert syndrome, orofaciodigital spectrum anomalies and complex polydactyly.
PMID 24884629 2014 CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study.
PMID 25238977 2014 Simpson-Golabi-Behmel syndrome types I and II.
PMID 16783569 2006 A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome.
PMID 10892847 2000 Evidence for a new locus for X-linked retinitis pigmentosa (RP23).
PMID 19876934 2009 The molecular basis of oral-facial-digital syndrome, type 1.
PMID 22353940 2012 Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations.
PMID 15466260 2004 OFD1 is a centrosomal/basal body protein expressed during mesenchymal-epithelial transition in human nephrogenesis.
PMID 22619378 2012 Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23).
PMID 16311594 2006 Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification.
PMID 23033313 2013 Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.
PMID 19396822 2009 Are the oral-facial-digital syndromes ciliopathies?
PMID 18546297 2008 Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients.
PMID 19800048 2009 OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.