Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis (Q28270878)

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author name string

Sahan V Rannan-Eliya

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Indira B Taylor

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I Marieke De Heer

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Ans M W Van Den Ouweland

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Steven A Wall

https://scigraph.springernature.com/pub.10.1007/s00439-004-1151-5

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language of work or name

English

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publication date

August 2004

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published in

Human Genetics

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volume

115

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issue

3

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page(s)

200-7

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exact match

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cites work

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Estimate of the mutation rate per nucleotide in humans

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Exclusive paternal origin of new mutations in Apert syndrome

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Achondroplasia is defined by recurrent G380R mutations of FGFR3

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The observed human sperm mutation frequency cannot explain the achondroplasia paternal age effect

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Loss of fibroblast growth factor receptor 2 ligand-binding specificity in Apert syndrome.

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Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome

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Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes

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A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome

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Identification of a genetic cause for isolated unilateral coronal synostosis: a unique mutation in the fibroblast growth factor receptor 3

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Genotype-phenotype correlation for nucleotide substitutions in the IgII- IgIII linker of FGFR2

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Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2

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Proline to arginine mutations in FGF receptors 1 and 3 result in Pfeiffer and Muenke craniosynostosis syndromes through enhancement of FGF binding affinity

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The X-Y homologous gene amelogenin maps to the short arms of both the X and Y chromosomes and is highly conserved in primates

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Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene

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Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis

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