| 概要 |
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development (ACCIID) is a condition characterized by multiple congenital abnormalities, which have been associated with mutations in the PPP3CA gene. This gene encodes the alpha isoform of the calcineurin catalytic subunit and mutations are associated with the auto-inhibitory (AI) domain.
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| 著者 |
Mizuguchi T, Nakashima M, Kato M, Okamoto N, Kurahashi H, Ekhilevitch N, Shiina M, Nishimura G, Shibata T, Matsuo M, Ikeda T, Ogata K, Tsuchida N, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Hata K, Kaname T, Matsubara Y, Saitsu H, Matsumoto N |
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