Articles with "xmr93 syndrome" as a keyword



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MRX93 syndrome (BRWD3 gene): five new patients with novel mutations

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Published in 2019 at "Clinical Genetics"

DOI: 10.1111/cge.13504

Abstract: Overgrowth syndromes (OGS) comprise a heterogeneous group of disorders whose main characteristic is that either the weight, height, or head circumference are above the 97th centile or 2 to 3 SD above the mean for… read more here.

Keywords: xmr93 syndrome; brwd3; five new; brwd3 gene ... See more keywords