| 概要 |
Brunet-Wagner neurodevelopmental syndrome (BRUWAG) is a severe autosomal recessive disorder with infantile hypotonia, severe developmental delay, and microcephaly. It has been reported that bi-allelic RBL2-truncating variants cause this syndrome. RBL2 is the main RB family member that binds E2F4 and functions as a key regulator of cell division. RBL2 is also involved in neuronal differentiation and neural survival.
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| 著者 |
Brunet T, Radivojkov-Blagojevic M, Lichtner P, Kraus V, Meitinger T, Wagner M |
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| 著者 |
Samra N, Toubiana S, Yttervik H, Tzur-Gilat A, Morani I, Itzkovich C, Giladi L, Abu Jabal K, Cao JZ, Godley LA, Mory A, Baris Feldman H, Tveten K, Selig S, Weiss K |
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