Cervical spine malformation in Cornelia de Lange syndrome: a report of three patients

Articolo
Data di Pubblicazione:
2014
Citazione:
Cervical spine malformation in Cornelia de Lange syndrome: a report of three patients / L.R. Bettini, L. Locatelli, M. Mariani, P. Cianci, C. Giussani, F. Canonico, A. Cereda, S. Russo, C. Gervasini, A. Biondi, A. Selicorni. - In: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. - ISSN 1552-4825. - 164:6(2014 Jun), pp. 1520-1524.
Abstract:
Cornelia de Lange syndrome (CdLS) is a complex genetic disease with skeletal involvement mostly related to upper limb malformations. We report on three males with clinical and molecular diagnoses of CdLS. Besides typical CdLS features, all showed different cervical spine malformations. To the best of our knowledge, this is an unusual malformation in the CdLS phenotypic spectrum.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
cornelia de lange syndrome; cervical spine malformation; NIPBL
Elenco autori:
L.R. Bettini, L. Locatelli, M. Mariani, P. Cianci, C. Giussani, F. Canonico, A. Cereda, S. Russo, C. Gervasini, A. Biondi, A. Selicorni
Autori di Ateneo:
GERVASINI CRISTINA COSTANZA GIOVANNA ( autore )
Link alla scheda completa:
https://air.unimi.it/handle/2434/288978

Aree Di Ricerca

Settori


Settore MED/03 - Genetica Medica