TY  - GEN
AU  - Chang,Ta C
AU  - Bauer,Mislen
AU  - Puerta,Herminia S
AU  - Greenberg,Matthew B
AU  - Cavuoto,Kara M
TI  - Ophthalmic findings in Frank-ter Haar syndrome: report of a sibling pair
SN  - 1528-3933
PY  - 2018///0615
KW  - Abnormalities, Multiple
KW  - diagnosis
KW  - Adaptor Proteins, Signal Transducing
KW  - genetics
KW  - Amblyopia
KW  - Child, Preschool
KW  - Choroid
KW  - abnormalities
KW  - Coloboma
KW  - Craniofacial Abnormalities
KW  - DNA Mutational Analysis
KW  - Developmental Disabilities
KW  - Eye Abnormalities
KW  - Eye Diseases, Hereditary
KW  - Female
KW  - Genetic Diseases, X-Linked
KW  - Heart Defects, Congenital
KW  - Humans
KW  - Iris
KW  - Male
KW  - Mutation
KW  - Nerve Fibers, Myelinated
KW  - pathology
KW  - Ocular Hypertension
KW  - Optic Disk
KW  - Osteochondrodysplasias
KW  - congenital
KW  - Siblings
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1016/j.jaapos.2017.07.216
ER  -