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

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 AND METHODS: Three neonates were diagnosed with...

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Detalles Bibliográficos
Autores principales: Şahinoğlu Keşkek, Nedime, Akkoyun, İmren, Temiz, Abdülkerim, Kütük, Özgür
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9249105/
https://www.ncbi.nlm.nih.gov/pubmed/35770050
http://dx.doi.org/10.4274/tjo.galenos.2021.72929