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

Bettini, L., Locatelli, L., Mariani, M., Cianci, P., Giussani, C., Canonico, F., et al. (2014). Cervical spine malformation in cornelia de lange syndrome: a report of three patients. AMERICAN JOURNAL OF MEDICAL GENETICS. PART A, 164(6), 1520-1524 [10.1002/ajmg.a.36457].

Cervical spine malformation in cornelia de lange syndrome: a report of three patients

Bettini, LR;GIUSSANI, CARLO GIORGIO;BIONDI, ANDREA;
2014

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
Articolo in rivista - Articolo scientifico
Cervical spine malformation; Cornelia de lange syndrome; NIPBL
English
2014
164
6
1520
1524
reserved
Bettini, L., Locatelli, L., Mariani, M., Cianci, P., Giussani, C., Canonico, F., et al. (2014). Cervical spine malformation in cornelia de lange syndrome: a report of three patients. AMERICAN JOURNAL OF MEDICAL GENETICS. PART A, 164(6), 1520-1524 [10.1002/ajmg.a.36457].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10281/58554
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