Mitchell–Riley Syndrome: Improving Clinical Outcomes and Searching for Functional Impact of RFX-6 Mutations

AIMS/HYPOTHESIS: Caused by biallelic mutations of the gene encoding the transcription factor RFX6, the rare Mitchell–Riley syndrome (MRS) comprises neonatal diabetes, pancreatic hypoplasia, gallbladder agenesis or hypoplasia, duodenal atresia, and severe chronic diarrhea. So far, sixteen cases have...

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Detalles Bibliográficos
Autores principales: Passone, Caroline de Gouveia Buff, Vermillac, Gaëlle, Staels, Willem, Besancon, Alix, Kariyawasam, Dulanjalee, Godot, Cécile, Lambe, Cécile, Talbotec, Cécile, Girard, Muriel, Chardot, Christophe, Berteloot, Laureline, Hachem, Taymme, Lapillonne, Alexandre, Poidvin, Amélie, Storey, Caroline, Neve, Mathieu, Stan, Cosmina, Dugelay, Emmanuelle, Fauret-Amsellem, Anne-Laure, Capri, Yline, Cavé, Hélène, Ybarra, Marina, Chandra, Vikash, Scharfmann, Raphaël, Bismuth, Elise, Polak, Michel, Carel, Jean Claude, Pigneur, Bénédicte, Beltrand, Jacques
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9257252/
https://www.ncbi.nlm.nih.gov/pubmed/35813646
http://dx.doi.org/10.3389/fendo.2022.802351

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