Skip to search formSkip to main contentSkip to account menu

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

Narrower (1)

OFD1 wt Allele

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
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… 
2016
2016
An Atypical Presentation of a Male with Oral-Facial-Digital Syndrome Type 1 Related Ciliopathy
Background. Oral-facial-digital syndrome type 1 (OFD1) is a rare condition with X-linked dominant inheritance caused by mutations… 
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… 
2010
2010
Study of the role of Ofd1 in limb and endochondral bone development
Oral-facial-digital type I (OFDI) syndrome is a X-linked male lethal developmental disorder and belongs to the heterogeneous… 
2009
2009
16-P025 The role of cilia during pectoral fin formation
2009
2009
16-P024 Functional characterization of the ciliary proteins lebercilin and MKS1
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… 
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… 
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)