Literature DB >> 26559129

Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus.

Francis H Sansbury, Birgül Kirel, Richard Caswell, Hana Lango Allen, Sarah E Flanagan, Andrew T Hattersley, Sian Ellard, Charles J Shaw-Smith.   

Abstract

Entities:  

Year:  2015        PMID： 26559129      PMCID： PMC4795206          DOI： 10.1038/ejhg.2015.208

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  1 in total

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

Authors:  Caroline de Gouveia Buff Passone; Gaëlle Vermillac; Willem Staels; Alix Besancon; Dulanjalee Kariyawasam; Cécile Godot; Cécile Lambe; Cécile Talbotec; Muriel Girard; Christophe Chardot; Laureline Berteloot; Taymme Hachem; Alexandre Lapillonne; Amélie Poidvin; Caroline Storey; Mathieu Neve; Cosmina Stan; Emmanuelle Dugelay; Anne-Laure Fauret-Amsellem; Yline Capri; Hélène Cavé; Marina Ybarra; Vikash Chandra; Raphaël Scharfmann; Elise Bismuth; Michel Polak; Jean Claude Carel; Bénédicte Pigneur; Jacques Beltrand
Journal:  Front Endocrinol (Lausanne)       Date:  2022-06-22       Impact factor: 6.055
  1 in total

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