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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...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Galenos Publishing
2022
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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 |