نتایج جستجو برای: ciliopathy
تعداد نتایج: 423 فیلتر نتایج به سال:
The importance of primary cilia in human health is underscored by the link between ciliary dysfunction and a group of primarily recessive genetic disorders with overlapping clinical features, now known as ciliopathies. Many of the proteins encoded by ciliopathy-associated genes are components of a handful of multi-protein complexes important for the transport of cargo to the basal body and/or i...
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...
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