Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome.
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DOI: 10.1093/hmg/ddac071
Abstract: We previously molecularly and clinically characterized Mazzanti syndrome, a RASopathy related to Noonan syndrome that is mostly caused by a single recurrent missense variant (c.4A > G, p.Ser2Gly) in SHOC2, which encodes a leucine-rich repeat (LRR)-containing protein… read more here.
Keywords: molecular spectrum; spectrum pathogenic; shoc2 variants; mazzanti syndrome ... See more keywords