| 概要 |
Achalasia-progeroid syndrome (ACHPS) is a progressive disorder characterized by a typical facial appearance, achalasia, progressive hearing loss, and generalized lipodystrophy. It has been reported that mutations in BUD13 cause this syndrome. BUD13 encodes a subunit of the retention and splicing (RES) complex that affects nuclear pre-mRNA retention.
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| 著者 |
Kornak U, Saha N, Keren B, Neumann A, Taylor Tavares AL, Piard J, Kopp J, Rodrigues Alves JG, Rodriguez de Los Santos M, El Choubassi N, Ehmke N, Jager M, Spielmann M, Pantel JT, Lejeune E, Fauler B, Mielke T, Hecht J, Meierhofer D, Strom TM, Laugel V, Brice A, Mundlos S, Bertoli-Avella A, Bauer P, Heyd F, Boute O, Dupont J, Depienne C, Van Maldergem L, Fischer-Zirnsak B |
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