Diagnosis of a pathogenic germline TRAF7 missense variant (c.1555 C > T, p.L519F) made on a prenatal basis by exome sequencing (ES) performed on chorionic villi. In this letter, we report the first published diagnosis of a pathogenic germline I TRAF7 i missense variant (c.1555 C > T, p.L519F) made on a prenatal basis by exome sequencing (ES) performed on chorionic villi. This case represents the first diagnosis of a pathogenic germline variant in I TRAF7 i made on a prenatal basis. [Extracted from the article]