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Article

Frequency and characterization of mutations in genes in a large cohort of patients referred to MODY registry.

Journal of pediatric endocrinology & metabolism : JPEM - 26 May 2021

Breidbart Emily, Deng Liyong, Lanzano Patricia, Fan Xiao, Guo Jiancheng, Leibel Rudolph L, LeDuc Charles A, Chung Wendy K

Abstract excerpt

OBJECTIVES: There have been few large-scale studies utilizing exome sequencing for genetically undiagnosed maturity onset diabetes of the young (MODY), a monogenic form of diabetes that is under-recognized. We describe a cohort of 160 individuals with suspected monogenic diabetes who were genetically assessed for mutations in genes known to cause MODY. METHODS: We used a tiered testing approach focusing initially...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33852230
DOI: 10.1515/jpem-2020-0501
PMCID: PMC8970616

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