Titre:
  • Additional clinical and molecular analyses of TFAP2A in patients with the branchio-oculo-facial syndrome
Auteur:Reiber, Judith; Sznajer, Yves; Posteguillo, Elena Guillén; Müller, Dietmar; Lyonnet, Stanislas; Baumann, Clarisse; Just, Walter
Informations sur la publication:American journal of medical genetics. Part A, 152, 4, page (994-999)
Statut de publication:Publié, 2010-04
Sujet CREF:Génétique clinique
Biologie
Mots-clés:Branchio-oculo-facial syndrome
Cleft lip/palate syndrome
Missense mutation
Rare diseases
Transcription factor AP-2
Note générale:SCOPUS: ar.j
Langue:Anglais
Identificateurs:urn:issn:1552-4825
info:doi/10.1002/ajmg.a.33331
info:scp/77950446686
info:pmid/20358615