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Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teethReduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis.A deletion of FGFR2 creating a chimeric IIIb/IIIc exon in a child with Apert syndromeFrank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure.Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome.Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis.Homozygous SALL1 mutation causes a novel multiple congenital anomaly-mental retardation syndrome.Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis.Diagnostic value of exome and whole genome sequencing in craniosynostosis.TCF12 microdeletion in a 72-year-old woman with intellectual disability.
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P50
description
hulumtuese
@sq
onderzoeker
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researcher
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հետազոտող
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name
Aimée L Fenwick
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Aimée L Fenwick
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Aimée L Fenwick
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Aimée L Fenwick
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Aimée L Fenwick
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Aimée L Fenwick
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Aimée L Fenwick
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Aimée L Fenwick
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Aimee Fenwick
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Aimée L Fenwick
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Aimée L Fenwick
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Aimée L Fenwick
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Aimée L Fenwick
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P106
P21
P31
P496
0000-0003-0279-1814