orofaciodigital syndrome การใช้

• Mutations in this gene have been associated with Orofaciodigital Syndrome IV and Joubert Syndrom 18.
• Many syndromes are associated with clinodactyly, including Down Syndrome, Turner syndrome, Aarskog syndrome, Carpenter syndrome, Seckel syndrome, Cornelia de Lange syndrome, orofaciodigital syndrome 1, 13q deletion syndrome and Silver Russell syndrome.
• Cilia have recently been implicated in a wide variety of human genetic diseases by " the discovery that numerous proteins involved in mammalian disease localize to the basal bodies and cilia . " For example, in just a single area of human disease physiology, cystic renal disease, cilia-related genes and proteins have been identified to have causal effect in polycystic kidney disease, nephronophthisis, Senior-Loken syndrome type 5, orofaciodigital syndrome type 1 and Bardet-Biedl syndrome.