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Article

Sex‐limited penetrance of lymphedema to females with CELSR1 haploinsufficiency: A second family

12 Aug 2019

Abstract excerpt

A second multigeneration family with hereditary lymphedema (LE) secondary to a variant in the planar polarity gene, CELSR1, is described. Dominant inheritance of the variant was discovered using whole-exome sequencing and confirmed by Sanger sequencing. In contrast to heterozygous males, all heterozygous females showed LE during physical examination albeit variable in severity and age of onset. Lymphscintigraphy...

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PMID: 31403174
DOI: 10.1111/cge.13622

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