Original paper
Sex‐limited penetrance of lymphedema to females with CELSR1 haploinsufficiency: A second family
Abstract
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 in affected females showed...
Paper Details
Title
Sex‐limited penetrance of lymphedema to females with CELSR1 haploinsufficiency: A second family
Published Date
Aug 23, 2019
Journal
Volume
96
Issue
5
Pages
478 - 482
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Notes
History