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Hyperinsulinaemic hypoglycaemia: A new presentation of 16p11.2 deletion syndrome.

作者信息

Kostopoulou Eirini, Dastamani Antonia, Caiulo Silvana, Antell Hannah, Flanagan Sarah E, Shah Pratik

机构信息

Research Laboratory of the Division of Paediatric Endocrinology and Diabetes, Department of Paediatrics, School of Medicine, University of Patras, Patras, Greece.

Endocrinology Department, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK.

出版信息

Clin Endocrinol (Oxf). 2019 May;90(5):766-769. doi: 10.1111/cen.13951. Epub 2019 Mar 7.

DOI:10.1111/cen.13951
PMID:30776145
Abstract
摘要

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Understanding copy number variations through their genes: a molecular view on 16p11.2 deletion and duplication syndromes.通过基因了解拷贝数变异：对16p11.2缺失和重复综合征的分子视角
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