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Article

A novel mutation in CELSR1 is associated with hereditary lymphedema

4 Feb 2016

Abstract excerpt

BACKGROUND: Biological evidence reported in the literature supports the role of CELSR1 as being essential for valvular function in murine lymphatics. Yet thus far, there have been no variants in CELSR1 associated with lymphatic dysfunction in humans. CASE PRESENTATION: In this report, a rare early inactivating mutation in CELSR1 is found to be causal for non-syndromic, lower extremity lymphedema in a family...

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PMID: 26855770
DOI: 10.1186/s13221-016-0035-5

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