Titre:
  • Ehlers-Danlos/myopathy overlap syndrome caused by a large de novo deletion in COL12A1
Auteur:Coppens, Sandra; Desmyter, Laurence; Koch, Manuel; Özcelik, Semra; O'Heir, Emily; Van Bogaert, Patrick; Vilain, Catheline; Christiaens, Florence
Informations sur la publication:American journal of medical genetics. Part A
Statut de publication:Publié, 2022-07-01
Sujet CREF:Biologie
Génétique clinique
Note générale:SCOPUS: ar.j
Langue:Anglais
Identificateurs:urn:issn:1552-4825
info:doi/10.1002/ajmg.a.62653
info:scp/85122702822