Associated Papers
A "Smurf-Cap" head requiring total cranial vault reshaping. A novel syndromic presentation of craniofrontonasal dysplasia associated with spina bifida.
Fragale M et al.
Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2025
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
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
Single gene disorders associated with congenital diaphragmatic hernia.
Slavotinek AM
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2007
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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