Article
EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model.
Birth defects research. Part A, Clinical and molecular teratology - 1 Jul 2015
Deml Brett, Reis Linda M, Muheisen Sanaa, Bick David, Semina Elena V
Abstract excerpt
BACKGROUND: Congenital microphthalmia and coloboma are severe developmental defects that are frequently associated with additional systemic anomalies and display a high level of genetic heterogeneity. METHODS: To identify the pathogenic variant in a patient with microphthalmia, coloboma, retinal dystrophy, microcephaly, and other features, whole exome sequencing analysis of the patient and parental samples was...
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