Exome sequencing identifies a de novo mutation of CTNNB1 gene in a patient mainly presented with retinal detachment, lens and vitreous opacities, microcephaly, and developmental delay: Case report and literature review.

Li, Niu

Exome sequencing identifies a de novo mutation of CTNNB1 gene in a patient mainly presented with retinal detachment, lens and vitreous opacities, microcephaly, and developmental delay: Case report and literature review. [electronic resource] - Medicine May 2017 - e6914 p. digital

Publication Type: Case Reports; Journal Article; Review

1536-5964

10.1097/MD.0000000000006914 doi


Codon, Nonsense
Developmental Disabilities--complications
Eye Abnormalities--complications
Humans
Infant
Male
Microcephaly--complications
Phenotype
beta Catenin--genetics