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OFD1 wt Allele

Known as: CXorf5, MGC117039, Oral-Facial-Digital Syndrome 1 wt Allele 
Human OFD1 wild-type allele is located in the vicinity of Xp22 and is approximately 35 kb in length. This allele, which encodes oral-facial-digital… Expand
National Institutes of Health

Papers overview

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Review
2019
Review
2019
Abstract Background OFD1 has long been recognized as the gene implicated in the classic dysmorphology syndrome, oral‐facial… Expand
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2016
2016
Hypomorphic germline mutations in the PIGA (phosphatidylinositol glycan class A) gene recently were recognized as the cause of a… Expand
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2013
2013
To the Editor : OFD1 mutations are responsible for X-linked dominant oral-facial-digital syndrome type I (OFDSI), as well as for… Expand
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2013
2013
OFD1, now recognized as a ciliopathy, is characterized by malformations of the face, oral cavity and digits, and is transmitted… Expand
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2011
2011
The OFD1 (oral-facial-digital, type 1) gene is implicated in several developmental disorders in humans. The X-linked OFD1 (OFD1X… Expand
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Highly Cited
2009
Highly Cited
2009
We ascertained a multi-generation Malaysian family with Joubert syndrome (JS). The presence of asymptomatic obligate carrier… Expand
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2009
2009
We ascertained a multi-generation Malaysian family with Joubert syndrome (JS). The presence of asymptomatic obligate carrier… Expand
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1998
1998
The human X chromosome is known to contain several disease genes yet to be cloned. In the course of a project aimed at the… Expand
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