Ophthalmic findings in Frank-ter Haar syndrome: report of a sibling pair. [electronic resource]
Producer: 20180615Description: 514-516 p. digitalISSN:- 1528-3933
- 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
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Publication Type: Case Reports; Journal Article
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