Associated Papers
Evaluation of Sporadic and Familial Cases with Craniofrontonasal Syndrome: A Wide Clinical Spectrum and Identification of a Novel EFNB1 Gene Mutation.
Gürsoy S et al.
Molecular Syndromology, 2021
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
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
Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1.
van den Elzen ME et al.
European Journal of Human Genetics : Ejhg, 2014
Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations.
Passos-Bueno MR et al.
Frontiers of Oral Biology, 2008
The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males.
Twigg SR et al.
American Journal of Human Genetics, 2006
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