Related references
Note: Only part of the references are listed.C5orf42 is the major gene responsible for OFD syndrome type VI
Estelle Lopez et al.
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HUMAN MUTATION (2009)
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HUMAN MUTATION (2008)
Primary cilia regulate hippocampal neurogenesis by mediating sonic hedgehog signaling
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PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
Kif3a constrains beta-catenin-dependent Wnt signalling through dual ciliary and non-ciliary mechanisms
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Research review oral-facial-digital syndromes: Review and diagnostic guidelines
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AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)
Functional characterization of the OFD1 protein reveals a nuclear localization and physical interaction with Subunits of a chromatin remodeling complex
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MOLECULAR BIOLOGY OF THE CELL (2007)
Molecular and clinical characterisation of three Spanish families with maternally inherited non-syndromic hearing loss caused by the 1494C→T mutation in the mitochondrial 12S rRNA gene
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JOURNAL OF MEDICAL GENETICS (2006)
A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome
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HUMAN GENETICS (2006)
Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification
MI Ferrante et al.
NATURE GENETICS (2006)
X-inactivation and human disease: X-linked dominant male-lethal disorders
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CURRENT OPINION IN GENETICS & DEVELOPMENT (2006)
OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells
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JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2003)
Identification of the gene for oral-facial-digital type I syndrome
MI Ferrante et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)