| 概要 |
BILU (B-cell immunodeficiency, distal limb anomalies, and urogenital malformations) syndrome is a novel multiple congenital anomalies syndrome that include both skeletal dysplasia and immune deficiency. It has been reported that autosomal dominant mutations in TOP2B cause BILU syndrome. TOP2B encodes a type II topoisomerase, an essential gene required to alleviate topological stress during DNA replication and gene transcription.
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| 著者 |
Broderick L, Yost S, Li D, McGeough MD, Booshehri LM, Guaderrama M, Brydges SD, Kucharova K, Patel NC, Harr M, Hakonarson H, Zackai E, Cowell IG, Austin CA, Hugle B, Gebauer C, Zhang J, Xu X, Wang J, Croker BA, Frazer KA, Putnam CD, Hoffman HM |
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| 著者 |
Edery P, Le Deist F, Briard ML, Debre M, Munnich A, Griscelli C, Fischer A, Lyonnet S |
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