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International Conference on Haematology and Medical Oncology
Edinburgh, ScotlandApert Syndrome: Molecularly Confirmed C.758C>G (P.Pro253Arg) in FGFR2
A 5-day-old girl was referred to our clinic for evaluation of congenital malformations. She was identified with a pathogenic mutation c.758C>G (p.Pro253Arg) in FGFR2 gene using targeted exome sequencing. The de novo mutation was confirmed with Sanger sequencing in the patient and her parents. She showed occipital plagiocephaly with frontal bossing. Skull frontal and lateral radiography revealed fusion of most of the sutures except coronal suture, with convolutional markings.
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