| 概要 |
Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities (NEDDFSB) is a syndromic intellectual disability characterized by developmental delay, microcephaly, seizures, facial dysmorphism, brachydactyly, and other congenital abnormalities. Affected individuals harbor mutations in HNRNPR, a multifaceted RNA binding protein with regulatory activities in transcription, splicing, localization, and translation. It has been suggested that HNRNPR mutations drive a combinatorial effect on the expression of several genes that are well-established to have tightly regulated roles in human development.
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| 著者 |
Duijkers FA, McDonald A, Janssens GE, Lezzerini M, Jongejan A, van Koningsbruggen S, Leeuwenburgh-Pronk WG, Wlodarski MW, Moutton S, Tran-Mau-Them F, Thauvin-Robinet C, Faivre L, Monaghan KG, Smol T, Boute-Benejean O, Ladda RL, Sell SL, Bruel AL, Houtkooper RH, MacInnes AW |
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