| 概要 |
Neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures (NEDHCS) is an inherited neurodevelopmental disorder associated with a SNIP1 mutation, present at high frequency in the Amish community. The cardinal clinical features include hypotonia, global developmental delay, intellectual disability, seizures, and a characteristic craniofacial appearance. SNIP1 is a widely expressed transcriptional suppressor of the TGF-beta signal-transduction pathway which plays a key role in human spliceosome function.
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| 著者 |
Ammous Z, Rawlins LE, Jones H, Leslie JS, Wenger O, Scott E, Deline J, Herr T, Evans R, Scheid A, Kennedy J, Chioza BA, Ames RM, Cross HE, Puffenberger EG, Harries L, Baple EL, Crosby AH |
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