Segmental undergrowth is associated with pathogenic variants in vascular malformation genes: A retrospective case-series study.

Abstract excerpt

Segmental overgrowth has been widely described in patients with congenital vascular anomalies. However, segmental undergrowth has been poorly characterized, and no large series of patients have been published. We present the clinical and molecular characteristics a cohort of 37 patients with vascular malformations and segmental undergrowth. True undergrowth was only considered when the musculoskeletal system was...

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