TY  - GEN
AU  - Li,Niu
AU  - Xu,Yufei
AU  - Li,Guoqiang
AU  - Yu,Tingting
AU  - Yao,Ru-En
AU  - Wang,Xiumin
AU  - Wang,Jian
TI  - 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
SN  - 1536-5964
PY  - 2017///0613
KW  - Codon, Nonsense
KW  - Developmental Disabilities
KW  - complications
KW  - Eye Abnormalities
KW  - Humans
KW  - Infant
KW  - Male
KW  - Microcephaly
KW  - Phenotype
KW  - beta Catenin
KW  - genetics
N1  - Publication Type: Case Reports; Journal Article; Review
UR  - https://doi.org/10.1097/MD.0000000000006914
ER  -