Clinical assessment and FGFR2 mutation analysis in a Chinese family with Crouzon syndrome
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DOI: 10.1097/md.0000000000024991
Abstract: Abstract Rationale: Crouzon syndrome is an autosomal dominant genetic disorder caused by mutations in fibroblast growth factor receptor 2 (FGFR2) and one of the most common types of craniosynostosis. Here we report the detection of… read more here.
Keywords: chinese family; crouzon syndrome; fgfr2 mutation; analysis ... See more keywords