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Article

h CALCRL mutation causes autosomal recessive nonimmune hydrops fetalis with lymphatic dysplasia

16 Aug 2018

Abstract excerpt

We report the first case of nonimmune hydrops fetalis (NIHF) associated with a recessive, in-frame deletion of V205 in the G protein–coupled receptor, Calcitonin Receptor-Like Receptor (hCALCRL). Homozygosity results in fetal demise from hydrops fetalis, while heterozygosity in females is associated with spontaneous miscarriage and subfertility. Using molecular dynamic modeling and in vitro biochemical assays, we...

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PMID: 30115739
DOI: 10.1084/jem.20180528

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