18p Deletion Syndrome With Concurrent Frizzled-4 Mutation : Surgical Management of Bilateral Stage 5 Traction Retinal Detachment

We report a case of a patient with 18p deletion syndrome and concurrent FZD4 (frizzled-4) mutation. A 6-month-old boy with known 18p deletion syndrome presented with abnormal eye movements in both eyes and an inability to track objects. The patient had a history of laryngomalacia, hypotonia, and dev...

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Veröffentlicht in:	Ophthalmic surgery, lasers & imaging retina. - 2013. - 54(2023), 5 vom: 06. Mai, Seite 284-290
1. Verfasser:	Wakabayashi, Taku (VerfasserIn)
Weitere Verfasser:	Patel, Samir N, Starr, Matthew R, Yonekawa, Yoshihiro
Format:	Online-Aufsatz
Sprache:	English
Veröffentlicht:	2023
Zugriff auf das übergeordnete Werk:	Ophthalmic surgery, lasers & imaging retina
Schlagworte:	Case Reports Journal Article FZD4 protein, human Frizzled Receptors TGIF1 protein, human Repressor Proteins Homeodomain Proteins