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
Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.
Paumard-Hernández B et al.
European Journal of Human Genetics : Ejhg, 2015
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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