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ENDubowitz Syndrome
Alias:
Dubowitz's Syndrome
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Dubowitz Syndrome, also known as dubowitz's syndrome, is related to microcephaly and lig4 syndrome. An important gene associated with Dubowitz Syndrome is NSUN2 (NOP2/Sun RNA Methyltransferase 2), and among its related pathways/superpathways are Processing of Capped Intron-Containing Pre-mRNA and tRNA processing. Affiliated tissues include bone and skin, and related phenotypes are intellectual disability and hypertelorism
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