Next-generation sequencing identifies monogenic diabetes in 16% of patients with late adolescence/adult-onset diabetes selected on a clinical basis: a cross-sectional analysis

被引：0
作者：
Xavier Donath
Cécile Saint-Martin
Danièle Dubois-Laforgue
Ramanan Rajasingham
François Mifsud
Cécile Ciangura
José Timsit
Christine Bellanné-Chantelot
机构：
[1] Assistance Publique-Hôpitaux de Paris (AP-HP),Department of Diabetology, Cochin Hospital
[2] and Paris Descartes University,Department of Genetics
[3] DHU AUTHORS,Department of Diagnostic and Interventional Radiology, and Neuroradiology
[4] Pitié-Salpêtrière Hospital,Department of Diabetology
[5] AP-HP,undefined
[6] Sorbonne University,undefined
[7] PRISIS Reference Center for Rare Diseases,undefined
[8] INSERM U1016,undefined
[9] Cochin Hospital,undefined
[10] Bretonneau Hospital,undefined
[11] University Hospital of Tours,undefined
[12] Pitié-Salpêtrière Hospital,undefined
[13] AP-HP,undefined
[14] Sorbonne University,undefined
来源：
BMC Medicine | / 17卷
关键词：
Monogenic diabetes; MODY; Next-generation sequencing; Molecular diagnostics; Variant of uncertain significance; Pathogenic variants;
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