Atypical Presentation of Sengers Syndrome: A Novel Mutation Revealed with Postmortem Genetic Testing.

CONCLUSION: This report provides further evidence that reverse genetics is a useful approach in patients who do not manifest the hallmark features of known and recognizable syndromes. PMID: 31303091 [PubMed - as supplied by publisher]
Source: Fetal and Pediatric Pathology - Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research