Publications by authors named "Jia Ying Celeste Yap"
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Synopsis of recent research by authors named "Jia Ying Celeste Yap"
- Jia Ying Celeste Yap's recent research focuses on genetic mutations and their implications in rare genetic disorders, particularly prenatal Caffey disease.
- One significant finding highlights the association of the IFITM5 Ser40Leu variant with a lethal form of prenatal Caffey disease in a case study involving a female neonate, who exhibited severe clinical features.
- The study emphasizes the need for thorough genetic testing beyond standard panels, as initial tests excluded conventional causes related to Caffey disease, underscoring the complexity of genetic diagnosis in such cases.
