Associated Papers
A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.
Lee E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Craniofrontonasal Syndrome: Atrial Septal Defect With a Novel EFNB1 Gene Mutation.
Goyal M et al.
The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2015
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
Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome.
Wieland I et al.
Clinical Genetics, 2007
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