Ehlers-Danlos/myopathy overlap syndrome caused by a large de novo deletion in COL12A1

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2022, Vol.188 (5), p.1556-1561
Main Authors: Coppens, Sandra, Desmyter, Laurence, Koch, Manuel, Özcelik, Semra, O'Heir, Emily, Van Bogaert, Patrick, Vilain, Catheline, Christiaens, Florence
Format: Report
Language:English
Online Access:Get full text
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ISSN:1552-4833
DOI:10.1002/ajmg.a.62653