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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations

Fig. 1

Clinical characteristics of representative patients. a Mixed LM of left thorax (mutation p.Glu545Lys at 5% by NGS). b CLVM of left thorax with visible lymphatic vesicles (mutation p.His1047Arg at 5% by NGS and 5% by ddPCR). c Unclassified PROS (mutation p.Cys420Arg at 2% by NGS). d Macrodactyly and syndactyly 2–3 with small sandal gap and CM of right foot of a CLOVES syndrome patient

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172