Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel EFNB1 mutation. [electronic resource]
Producer: 20210112Description: 1223-1229 p. digitalISSN:- 1552-4833
- Agenesis of Corpus Callosum -- diagnostic imaging
- Child
- Child, Preschool
- Craniofacial Abnormalities -- diagnostic imaging
- Ephrin-B1 -- genetics
- Exons -- genetics
- Female
- Hernias, Diaphragmatic, Congenital -- diagnostic imaging
- Heterozygote
- Humans
- Infant
- Male
- Mutation -- genetics
- Skull -- diagnostic imaging
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Publication Type: Case Reports; Journal Article
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