Associated Papers
Trio-Based Whole-Exome Sequencing Identifies a De novo EFNB1 Mutation as a Genetic Cause in Female Infant With Brain Anomaly and Developmental Delay.
Han JY et al.
Frontiers in Pediatrics, 2020
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
Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations.
Passos-Bueno MR et al.
Frontiers of Oral Biology, 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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