An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non-syndromic trigonocephalyKress W.a · Petersen B.b · Collmann H.c · Grimm T.a
aDepartment of Human Genetics, University of Würzburg; bChildren’s Hospital, University of Würzburg; cDepartment of Paediatric Neurosurgery, University of Würzburg, Würzburg (Germany)
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Non-syndromic trigonocephaly is a heterogeneous entity; in most cases the origin is unknown. Rare cases with autosomal dominant and recessive inheritance exist. Here the mutational screening of ten patients in the FGFR1, 2, and 3 genes and the TWIST gene causative of autosomal dominant craniosynostosis syndromes was reported. In one girl an unusual FGFR1 mutation was found.
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