Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly.

ABSTRACT: Central conducting lymphatic anomaly (CCLA) is a heterogenous disorder caused by disruption of central lymphatic flow that may result in dilation or leakage of central lymphatic channels. There is also a paucity of known genetic diagnoses associated with CCLA. We hypothesized that specific genetic syndromes would have distinct lymphatic patterns and this would allow us to more precisely define CCLA. As a first step toward "precision lymphology", we defined the genetic conditions associated with CCLA by performing a retrospective cohort study. Individuals receiving care through the Jill and Mark Fishman Center for Lymphatic Disorders at the Children's Hospital of Philadelphia between 2016 and 2019 were included if they had a lymphangiogram and clinical genetic testing performed and consente

SUBMITTER: Liu M 

PROVIDER: S-EPMC9436962 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature