Ophthalmic findings in Frank-ter Haar syndrome: report of a sibling pair.

Chang, Ta C

Ophthalmic findings in Frank-ter Haar syndrome: report of a sibling pair. [electronic resource] - Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus Dec 2017 - 514-516 p. digital

Publication Type: Case Reports; Journal Article

1528-3933

10.1016/j.jaapos.2017.07.216 doi


Abnormalities, Multiple--diagnosis
Adaptor Proteins, Signal Transducing--genetics
Amblyopia--genetics
Child, Preschool
Choroid--abnormalities
Coloboma--genetics
Craniofacial Abnormalities--genetics
DNA Mutational Analysis
Developmental Disabilities--genetics
Eye Abnormalities--diagnosis
Eye Diseases, Hereditary--genetics
Female
Genetic Diseases, X-Linked--genetics
Heart Defects, Congenital--genetics
Humans
Iris--abnormalities
Male
Mutation
Nerve Fibers, Myelinated--pathology
Ocular Hypertension--genetics
Optic Disk--pathology
Osteochondrodysplasias--congenital
Siblings