Titre:
  • Prenatal diagnosis of a constitutional interstitial deletion of chromosome 5 (q15q31.1) presenting with features of congenital contractural arachnodactyly
Auteur:Courtens, Winnie; Tjalma, Wiebren Age Andries; Messiaen, L M; Vamos, Eszter; Martin, Johnny; Van Bogaert, Eric; Keersmaekers, Guy; Meulyzer, P.; Wauters, Jean-Pierre
Informations sur la publication:American journal of medical genetics, 77, 3, page (188-197)
Statut de publication:Publié, 1998-05
Sujet CREF:Sciences bio-médicales et agricoles
Mots-clés:Club feet
Congenital contractural arachnodactyly/Beals syndrome
Familial adenomatous polyposis
Fibrillin-2 gene
Interstitial deletion of chromosome 5q
Prenatal diagnosis
Note générale:SCOPUS: ar.j
Langue:Anglais
Identificateurs:urn:issn:0148-7299
info:doi/10.1002/(SICI)1096-8628(19980518)77:3<188::AID-AJMG3>3.0.CO;2-M
info:scp/0032543287