Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel EFNB1 mutation.

Acosta-Fernández, Elizabeth

Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel EFNB1 mutation. [electronic resource] - American journal of medical genetics. Part A 05 2020 - 1223-1229 p. digital

Publication Type: Case Reports; Journal Article

1552-4833

10.1002/ajmg.a.61506 doi


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