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… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

2009-2016
01220092016

Papers overview

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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… (More)
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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… (More)
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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… (More)
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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… (More)
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