Craniofacial dysostosis type 1

Known as: CROUZON SYNDROME, Crouzons Disease, CRANIOFACIAL DYSOSTOSIS, TYPE I 
 
National Institutes of Health

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Atresia of the external auditory canalAutosomal dominant inheritanceBrachycephalyClass III malocclusion
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Craniofacial Dysostosis

Papers overview

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2012
2012
X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face.
BACKGROUND We present a large Dutch family with seven males affected by a novel syndrome of X-linked intellectual disability… (More)
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2008
2008
Optimizing craniofacial osteotomies: applications of haptic and rapid prototyping technology.
 
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2007
2007
Assessment of the accuracy of three-dimensional manual craniofacial reconstruction: a series of 25 controlled cases
The aim of this work was to estimate the accuracy of craniofacial reconstruction (CFR), from a series of 25 controlled cases… (More)
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Highly Cited
2005
Highly Cited
2005
Activation of the iron regulon by the yeast Aft1/Aft2 transcription factors depends on mitochondrial but not cytosolic iron-sulfur protein biogenesis.
Two transcriptional activators, Aft1 and Aft2, regulate iron homeostasis in Saccharomyces cerevisiae. These factors induce the… (More)
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Highly Cited
2003
Highly Cited
2003
A novel eukaryotic factor for cytosolic Fe-S cluster assembly.
Iron regulatory protein 1 (IRP1) is regulated through the assembly/disassembly of a [4Fe-4S] cluster, which interconverts IRP1… (More)
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Highly Cited
2000
Highly Cited
2000
Parallels of craniofacial maldevelopment in Down syndrome and Ts65Dn mice.
Mouse genetic models can be used to dissect molecular mechanisms that result in human disease. This approach requires detection… (More)
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1995
1995
Constitutive activation of fibroblast growth factor receptor-2 by a point mutation associated with Crouzon syndrome.
The fibroblast growth factor receptors (FGFRs) are a family of ligand-activated, membrane-spanning tyrosine kinases. Mutations in… (More)
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1993
1993
Longitudinal assessment of mental development in infants with nonsyndromic craniosynostosis with and without cranial release and reconstruction.
The effect of cranial release and reconstruction on the mental development of infants with nonsyndromic craniosynostosis was… (More)
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1986
1986
Skull expansion in experimental craniosynostosis.
Bilateral coronal suture immobilization was performed in 9-day-old rabbits to simulate the brachycephaly deformity characteristic… (More)
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1971
1971
Intrinsic craniofacial compensations.
 
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