Oculo-auriculo-vertebral spectrum: Clinical and molecular analysis of 51 patients

Abstract Introduction Oculo-auriculo-vertebral spectrum (OAVS OMIM 164210 ) is a craniofacial developmental disorder affecting the development of the structures derived from the 1st and the 2nd branchial arches during embryogenesis, with consequential maxillary, mandibular, and ear abnormalities. Th...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	European journal of medical genetics 2015-09, Vol.58 (9), p.455-465
Hauptverfasser:	Beleza-Meireles, Ana, Hart, Rachel, Clayton-Smith, Jill, Oliveira, Renata, Reis, Cláudia Falcão, Venâncio, Margarida, Ramos, Fabiana, Sá, Joaquim, Ramos, Lina, Cunha, Elizabete, Pires, Luís Miguel, Carreira, Isabel Marques, Scholey, Rachel, Wright, Ronnie, Urquhart, Jill E, Briggs, Tracy A, Kerr, Bronwyn, Kingston, Helen, Metcalfe, Kay, Donnai, Dian, Newman, William G, Saraiva, Jorge Manuel, Tassabehji, May
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - diagnosis Abnormalities, Multiple - genetics Brain - abnormalities Comparative Genomic Hybridization Copy number variation Developmental Disabilities - genetics Ear - abnormalities Ear - embryology Eye Abnormalities - diagnosis Eye Abnormalities - genetics Female First and second branchial arch Goldenhar syndrome Goldenhar Syndrome - diagnosis Goldenhar Syndrome - genetics Heart Defects, Congenital - diagnosis Heart Defects, Congenital - genetics Hemifacial microsomia Hernia, Diaphragmatic - diagnosis Hernia, Diaphragmatic - genetics Humans Male Medical Education Oculoauriculovertebral spectrum Preauricular tags Spine - abnormalities
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!