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
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
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