A New Case of PCSK1 Pathogenic Variant With Congenital Proprotein Convertase 1/3 Deficiency and Literature Review

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Abstract

<p class="first" id="d3705273e137">To report a homozygous pathogenic variant in PCSK1 in a boy affected with proprotein convertase 1/3 (PC1/3) deficiency. </p>

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Journal

Title: The Journal of Clinical Endocrinology & Metabolism

Publisher: The Endocrine Society

ISSN (Print): 0021-972X

ISSN (Electronic): 1945-7197

Publication date Created: April 2019

Publication date Created: April 01 2019

Publication date Created: October 31 2018

Publication date Other: April 2019

Publication date (Print): April 01 2019

Publication date (Electronic): October 31 2018

Volume: 104

Issue: 4

Pages: 985-993

Affiliations

[1 ]Department of Pediatric Endocrinology and Diabetology, University Hospital of Angers, Angers Cedex 9, France

[2 ]Department of Biochemistry and Genetics, University Hospital of Angers, Angers Cedex 9, France

[3 ]UMR CNRS 6214-INSERM 1083 and PREMMI, University of Angers, Angers Cedex 9, France

[4 ]Reference Center for Rare Diseases of Pituitary Origin—Constituent Site (HYPO), University Hospital of Angers, Angers Cedex 9, France

Article

DOI: 10.1210/jc.2018-01854

SO-VID: 977dbbf8-0b32-491f-ba0a-3459003232e5

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