Accurate diagnosis and heterogeneity analysis of a 17q12 deletion syndrome family with adulthood diabetes onset and complex clinical phenotypes
Hui‐Xuan Wu, Long Li, Hong Zhang, Jun Tang, Meibiao Zhang, Haoneng Tang, Guo Yue, Zhiguang Zhou, Hou‐De Zhou
Topics & Concepts
HNF1BHaploinsufficiencyGeneticsBiologySanger sequencingPhenotypeCopy-number variationDiabetes mellitusGenetic heterogeneityGeneDNA sequencingHomeoboxEndocrinologyGenomeGene expressionPancreatic function and diabetesCongenital heart defects researchDiabetes Treatment and Management