P488: Research re-analysis of raw genomic data leads to the first described inherited case of CLDN5 in two brothers
Erica Schindewolf(Children's Hospital of Philadelphia), Rebecca Ganetzky(Children's Hospital of Philadelphia), Gonench Kilich(Children's Hospital of Philadelphia), Kathleen Sullivan(Children's Hospital of Philadelphia), Ramakrishnan Rajagopalan
Cited by 0
Related Papers
Broadening the phenotypic spectrum of Pearson syndrome: Five new cases and a review of the literature
|American Journal of Medical Genetics Part A|2019|38
The Genomics of Congenital Diaphragmatic Hernia: A 10-Year Retrospective Review
|The Journal of Pediatrics|2022|23
Hyperornithinemia, Hyperammonemia, and Homocitrullinuria Syndrome Causing Severe Neonatal Hyperammonemia
|JIMD Reports|2018|12
Rubella virus chronic inflammatory disease and other unusual viral phenotypes in inborn errors of immunity
|Immunological Reviews|2023|6
Kagami Ogata syndrome: a small deletion refines critical region for imprinting
|npj Genomic Medicine|2024|6