| 概要 |
Xerosis and growth failure with immune and pulmonary dysfunction syndrome (XGIP) is a novel autosomal recessive disorder characterized by early lethality severe developmental defects. Consistent features include prematurity, severe intrauterine growth deficiency, congenital ichthyosis-like presentation. Patient-derived fibroblasts displayed the characteristic accumulation of intron lariats in their RNA. It has been suggested that DBR1 deficiency cause this disorder. DBR1 is the only RNA lariat-debranching enzyme in humans.
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| 著者 |
Shamseldin HE, Sadagopan M, Martini J, Al-Ali R, Radefeldt M, Ataei M, Lemke S, Rahbeeni Z, Al Mutairi F, Ababneh F, AlRukban HA, Abdulwahab F, Alhajj SM, Bauer P, Bertoli-Avella A, Alkuraya FS |
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