Hedgehog Signal Defect Leading to Familial Exudative Vitreoretinopathy-Like Disease and Gastrointestinal Malformation

Autor: Nedime Şahinoğlu Keşkek, İmren Akkoyun, Abdülkerim Temiz, Özgür Kütük

Publikováno v: Türk Oftalmoloji Dergisi, Vol 52, Iss 3, Pp 174-178 (2022)

Objectives:The aim of the study was to present a new genetic association presenting with gastrointestinal tract malformations (GTMs) and familial exudative vitreoretinopathy (FEVR)-like disease and review the genetics of Hedgehog signaling.Materials

Externí odkaz: https://doaj.org/article/bec64565a286414186c2a907116f8f02

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Hedgehog Signal Defect Leading to Familial Exudative Vitreoretinopathy-Like Disease and Gastrointestinal Malformation.

Autor: Şahinoğlu Keşkek N; Başkent University Faculty of Medicine, Adana Research and Training Center, Department of Ophthalmology, Adana, Turkey., Akkoyun İ; Başkent University Faculty of Medicine, Department of Ophthalmology, Ankara, Turkey., Temiz A; Başkent University Faculty of Medicine, Adana Research and Training Center, Department of Pediatric Surgery, Adana, Turkey., Kütük Ö; Başkent University Faculty of Medicine, Adana Research and Training Center, Department of Medical Genetics, Adana, Turkey.

Publikováno v: Turkish journal of ophthalmology [Turk J Ophthalmol] 2022 Jun 29; Vol. 52 (3), pp. 174-178.