| 概要 |
Congenital hypotonia, epilepsy, developmental delay, and digital anomalies (CHEDDA) is a neurodevelopmental disorder characterized by severe cognitive impairment, hypotonia, a distinctive facial gestalt, and variable congenital anomalies. It is caused by mutations in the ATN1 gene that disrupt a highly conserved 16-amino-acid HX repeat motif. ATN1 encodes atrophin-1, a member of an evolutionarily conserved class of transcriptional corepressors involved in nuclear signaling.
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| 著者 |
Palmer EE, Hong S, Al Zahrani F, Hashem MO, Aleisa FA, Ahmed HMJ, Kandula T, Macintosh R, Minoche AE, Puttick C, Gayevskiy V, Drew AP, Cowley MJ, Dinger M, Rosenfeld JA, Xiao R, Cho MT, Yakubu SF, Henderson LB, Guillen Sacoto MJ, Begtrup A, Hamad M, Shinawi M, Andrews MV, Jones MC, Lindstrom K, Bristol RE, Kayani S, Snyder M, Villanueva MM, Schteinschnaider A, Faivre L, Thauvin C, Vitobello A, Roscioli T, Kirk EP, Bye A, Merzaban J, Jaremko L, Jaremko M, Sachdev RK, Alkuraya FS, Arold ST |
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