Loss of function variant in SPIN4 causes an X-linked overgrowth syndrome.
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DOI: 10.1172/jci.insight.167074
Abstract: Overgrowth syndromes can be caused by pathogenic genetic variants in epigenetic writers, such as DNA and histone methyltransferases. However, no overgrowth disorder has previously been ascribed to variants in a gene that acts primarily as… read more here.
Keywords: growth; spin4 causes; loss; variant ... See more keywords