Associated Papers
Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel EFNB1 mutation.
Acosta-Fernández E et al.
American Journal of Medical Genetics. Part A, 2020
The impact of CFNS-causing EFNB1 mutations on ephrin-B1 function.
Makarov R et al.
Bmc Medical Genetics, 2010
Dissecting the molecular mechanisms in craniofrontonasal syndrome: differential mRNA expression of mutant EFNB1 and the cellular mosaic.
Wieland I et al.
European Journal of Human Genetics : Ejhg, 2008
Gene symbol: EFNB1. Disease: Craniofrontonasal syndrome.
Wieland I et al.
Human Genetics, 2008
Gene symbol: EFNB1. Disease: Craniofrontonasal syndrome.
Wieland I et al.
Human Genetics, 2008
Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS).
Wieland I et al.
Human Mutation, 2005
Clinical and genetic aspects of craniofrontonasal syndrome: towards resolving a genetic paradox.
Wieacker P et al.
Molecular Genetics and Metabolism, 0
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