Metatropic dysplasia in third trimester of pregnancy and a novel causative variant in the TRPV4 gene.
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DOI: 10.1016/j.ejmg.2017.04.007
Abstract: Prenatal diagnosis of skeletal dysplasias is particularly difficult for many reasons and differentiating these disorders in the prenatal period can be challenging because they are rare and many of the ultrasound findings are not necessarily… read more here.
Keywords: causative variant; metatropic dysplasia; diagnosis; trpv4 gene ... See more keywords