نتایج جستجو برای: ofd1
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Oral-facial-digital syndrome (OFD) is a ciliopathy that is characterized by oral-facial abnormalities, including cleft lip and/or palate, broad nasal root, dental anomalies, micrognathia and glossal defects. In addition, these individuals have several other characteristic abnormalities that are typical of a ciliopathy, including polysyndactyly, polycystic kidneys and hypoplasia of the cerebellu...
Oral-facial-digital syndrome (OFD) is a ciliopathy characterized by oral-facial abnormalities including cleft lip/palate, broad nasal root, dental anomalies, micrognathia and glossal defects. In addition, these patients have several other characteristic abnormalities typical of a ciliopathy including polysyndactyly, polycystic kidneys and hypoplasia of the cerebellum. Recently, a subset of huma...
Oral-facial-digital syndrome (OFD) is a ciliopathy that is characterized byoral-facial abnormalities, includingcleft lip and/orpalate, broadnasal root, dental anomalies, micrognathia and glossal defects. In addition, these individuals have several other characteristic abnormalities that are typical of a ciliopathy, including polysyndactyly, polycystic kidneys and hypoplasia of the cerebellum. R...
Oral-facial-digital syndrome type I (OFDI) is an X-linked syndrome, which has several craniofacial and limb features; and hence, patients frequently present to craniofacial and plastic surgeons. Oral-facial-digital syndrome type I is caused by mutations in the CXORF5 gene. The gene product is one of the basal body proteins of a slim microtubule-based organelle called the "primary cilium". Most ...
Background: Although both the mother's and father's alleles are present in the offspring, they may not operate at the same level. These parent-of-origin (PoO) effects have not yet been explored on the X chromosome, which motivated us to develop new methods for detecting such effects. Orofacial clefts (OFCs) exhibit sex-specific differences in prevalence and are examples of traits where a search...
Authors: Tzu-Lan Yeh 1,4 , Thomas M. Leissing 1,2 , Martine I. Abboud 1 , Cyrille C. Thinnes 1 , Onur Atasoylu 1 , James P. Holt-Martyn 1 , Dong Zhang 1 , Anthony Tumber 1,3 , Kerstin Lippl 1 , Christopher T. Lohans 1 , Ivanhoe K. H. Leung 1‡ , Helen Morcrette 5† , Ian J. Clifton 1 , Timothy D. W. Claridge 1 , Akane Kawamura 1,5 , Emily Flashman 1 , Xin Lu 2 , Peter J. Ratcliffe 4,6 , Rasheduzz...
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