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
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
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