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OFD1 gene

Known as: Oral-Facial-Digital Syndrome 1 Gene, 71-7A, OFD1 
This gene may play a role in the regulation of embryonic development.
National Institutes of Health

Related topics

Related topics

4 relations
JOUBERT SYNDROME 10 (disorder)Oral-Facial-Digital Syndrome 1 ProteinOrofaciodigital Syndrome I

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OFD1 wt Allele

Papers overview

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Review
2017
Review
2017
Novel OFD1 frameshift mutation in a Chinese boy with Joubert syndrome: a case report and literature review
Joubert syndrome (JBTS) is a clinically and genetically heterogeneous group of ciliopathy with a key diagnostic feature of ‘molar… 
2017
2017
[Clinical and genetic analysis of a family with Joubert syndrome type 10 caused by OFD1 gene mutation].
Objective: To investigate the genetic cause for a family with multiorgan dysplasia and "molar tooth sign" on MRI image. Method… 
2016
2016
A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case Report
Oral-facial-digital syndrome as heterogeneous developmental conditions is characterized by abnormalities in the oral cavity… 
2014
2014
Self-eating to remove cilia roadblock
Autophagy delivers many proteins and cellular components to the lysosome for degradation via selective or nonselective mechanisms… 
2014
2014
OFD1 and Flotillins Are Integral Components of a Ciliary Signaling Protein Complex Organized by Polycystins in Renal Epithelia and Odontoblasts
Mutation of the X-linked oral-facial-digital syndrome type 1 (OFD1) gene is embryonic lethal in males and results in craniofacial… 
2011
2011
A novel mutation in the OFD1 (Cxorf5) gene may contribute to oral phenotype in patients with oral-facial-digital syndrome type 1.
BACKGROUND Oral-facial-digital syndrome (OFDS) type 1 (OFD1) is an X-linked dominant condition associated with embryonic male… 
2011
2011
Regional Selection Acting on the OFD1 Gene Family
The OFD1 (oral-facial-digital, type 1) gene is implicated in several developmental disorders in humans. The X-linked OFD1 (OFD1X… 
2003
2003
Characterization of the OFD1/Ofd1 genes on the human and mouse sex chromosomes and exclusion of Ofd1 for the Xpl mouse mutant.
Review
2002
Review
2002
Recent insights into kidney diseases associated with glomerular cysts
Glomerular cysts can exist in the context of several different kidney diseases. Advances in the last few years have begun to… 
2002
2002
Four novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome 1
Oral-facial-digital syndrome type 1 (OFD1, MIM 311200) was first described by Papillon-Leage and Psaume1 in 1954 and further… 
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