| Description |
Li-Takada-Miyake syndrome (LTMS) is a novel syndrome characterized by prenatal-onset growth impairment, microcephaly, characteristic face, situs inversus, and developmental delay. It has been reported that loss-of-function mutations in GON4L cause this syndrome. GON4L encodes GON4-like protein, which localizes in the nucleus and is a putative transcriptional regulator associated with cell division, proliferation and differentiation.
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| Authors |
Li S, Takada S, Abdel-Salam GMH, Abdel-Hamid MS, Zaki MS, Issa MY, Salem AMS, Koshimizu E, Fujita A, Fukai R, Ohshima T, Matsumoto N, Miyake N |
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