| 概要 |
Beck-Fahrner syndrome (BEFAHRS) is a neurodevelopmental syndrome that shows global developmental delay and/or intellectual disability and other neurological manifestations, growth abnormalities, and characteristic craniofacial features. It has been reported that mutations in TET3 cause this disease. TET3 is a methylcytosine dioxygenase that initiates DNA demethylation during early zygote formation, embryogenesis, and neuronal differentiation.
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| 著者 |
Beck DB, Petracovici A, He C, Moore HW, Louie RJ, Ansar M, Douzgou S, Sithambaram S, Cottrell T, Santos-Cortez RLP, Prijoles EJ, Bend R, Keren B, Mignot C, Nougues MC, Ounap K, Reimand T, Pajusalu S, Zahid M, Saqib MAN, Buratti J, Seaby EG, McWalter K, Telegrafi A, Baldridge D, Shinawi M, Leal SM, Schaefer GB, Stevenson RE, Banka S, Bonasio R, Fahrner JA |
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