Titre:
  • Blepharophimosis, ptosis, epicanthus inversus syndrome with translocation and deletion at chromosome 3q23 in a black African female
Auteur:Alao, Maroufou M.J.; Lalèyè, Anatole; Lalya, Francis; Hans, Christine; Abramovicz, M.; Morice-Picard, Fanny; Arveiler, Benoit; Lacombe, Didier; Rooryck, Caroline
Informations sur la publication:European journal of medical genetics, 55, 11, page (630-634)
Statut de publication:Publié, 2012-11
Sujet CREF:Génétique clinique
Biologie
Mots-clés:BEPS
Chromosome 3
Deletion
FOXL2
Translocation
Note générale:SCOPUS: ar.j
Langue:Anglais
Identificateurs:urn:issn:1769-7212
info:doi/10.1016/j.ejmg.2012.07.005
info:pii/S1769721212002169
info:scp/84867139580
info:pmid/22906557