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
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
Four novel mutations in EFNB1 in Indian patients with craniofrontonasal syndrome.
Howaldt A et al.
Journal of Human Genetics, 2019
A novel EFNB1 mutation (c.712delG) in a family with craniofrontonasal syndrome and diaphragmatic hernia.
Hogue J et al.
American Journal of Medical Genetics. Part A, 2010
Additional EFNB1 mutations in craniofrontonasal syndrome.
Wallis D et al.
American Journal of Medical Genetics. Part A, 2008
Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations.
Passos-Bueno MR et al.
Frontiers of Oral Biology, 2008
Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia.
Vasudevan PC et al.
European Journal of Human Genetics : Ejhg, 2006
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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