Apert syndrome: prenatal diagnosis challenge
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DOI: 10.1136/bcr-2019-231982
Abstract: Apert syndrome is a rare genetic disorder that manifests as craniosynostosis, craniofacial and limb dysmorphic features. Mutations in fibroblast growth factor receptor 2 (FGFR2) gene account for almost all cases. Given the impact it can… read more here.
Keywords: syndrome prenatal; diagnosis; prenatal diagnosis; apert syndrome ... See more keywords