Cervical spine malformation in cornelia de lange syndrome: A report of three patients-Reference-Cited by-同舟云学术

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

Published:2014-03-25 Issue:6 Volume:164 Page:1520-1524
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Bettini Laura Rachele¹,Locatelli Laura¹,Mariani Milena¹,Cianci Paola¹,Giussani Carlo²,Canonico Francesco³,Cereda Anna¹,Russo Silvia⁴,Gervasini Cristina⁵,Biondi Andrea¹,Selicorni Angelo¹

Affiliation:

1. Pediatric Department at Monza Brianza per il Bambino e la sua Mamma (MBBM) Foundation; Pediatric Genetic Unit, San Gerardo Hospital; Monza Italy

2. Neuroscience and Biomedical Technology Department, Neurosurgery Unit; University of Milano Bicocca, San Gerardo Hospital; Monza Italy

3. Neuroimaging Unit; San Gerardo Hospital; Monza Italy

4. Molecular Genetics and Cytogenetics Laboratory; IRCCS, Milano, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS); Milano Italy

5. Medical Genetics; Department of Health Sciences; Università degli Studi di Milano, San Paolo Hospital; Milan Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference25 articles.

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3. Radiological features in Brachmann-de Lange syndrome;Braddock;Am J Med Genet,1993

4. HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle;Deardorff;Nature,2012a

5. RAD21 mutations cause a human cohesinopathy;Deardorff;Am J Hum Genet,2012b

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2. De novo NIPBL Mutations in Vietnamese Patients with Cornelia de Lange Syndrome;Medicina;2020-02-14

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4. Integrating molecular and structural findings: Wnt as a possible actor in shaping cognitive impairment in Cornelia de Lange syndrome;Orphanet Journal of Rare Diseases;2017-11-21

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