| 概要 |
Cerebellofaciodental syndrome (CFDS) is an autosomal recessive disorder characterized by cerebellar hypoplasia and intellectual disability, as well as facial dysmorphic features, short stature, microcephaly, and dental anomalies. Biallelic missense alterations of BRF1 have been revealed in CFDS families. It is suggested that BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.
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| 著者 |
Borck G, Hog F, Dentici ML, Tan PL, Sowada N, Medeira A, Gueneau L, Thiele H, Kousi M, Lepri F, Wenzeck L, Blumenthal I, Radicioni A, Schwarzenberg TL, Mandriani B, Fischetto R, Morris-Rosendahl DJ, Altmuller J, Reymond A, Nurnberg P, Merla G, Dallapiccola B, Katsanis N, Cramer P, Kubisch C |
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