Use of nutritional devices in Cornelia de Lange syndrome: Data from a large Italian cohort-Reference-Cited by-同舟云学术

Use of nutritional devices in Cornelia de Lange syndrome: Data from a large Italian cohort

Published:2018-09 Issue:9 Volume:176 Page:1865-1871
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Decimi Valentina¹,Parma Barbara²,Panceri Roberto¹,Fossati Chiara¹,Mariani Milena³,Russo Silvia⁴,Gervasini Cristina C.⁵,Cheli Maurizio⁶,Cereda Anna⁷,Selicorni Angelo²^ORCID

Affiliation:

1. Department of PediatricsUniversità Milano Bicocca Monza Italy

2. Department of Pediatrics. ASST‐Lariana. Sant'Anna Hospital San Fermo della Battaglia (Como) Italy

3. School of Specialization in Medical GeneticsUniversity of Milan Milan Italy

4. Laboratory of Molecular GeneticsIstituto Auxologico Italiano Milano Italy

5. Medical Genetics, Department of Health SciencesUniversità degli Studi di Milano Milano Italy

6. Department of Pediatric SurgeryASST Papa Giovanni XXIII Bergamo Italy

7. Department of PediatricsASST Papa Giovanni XXIII Bergamo Italy

Funder

Fondazione Pierfranco e Luisa Mariani

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.40372

Reference50 articles.

1. Communication, cognitive development and behavior in children with Cornelia de Lange Syndrome (CdLS): Preliminary results

2. De Lange syndrome: subjective and objective comparison of the classical and mild phenotypes.

3. Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

4. Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience

5. NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome

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1. What Every Internist-Endocrinologist Should Know about Rare Genetic Syndromes in Order to Prevent Needless Diagnostics, Missed Diagnoses and Medical Complications: Five Years of ‘Internal Medicine for Rare Genetic Syndromes’;Journal of Clinical Medicine;2021-11-22

2. Complex nutritional deficiencies in a large cohort of Italian patients with Cornelia de Lange syndrome spectrum;American Journal of Medical Genetics Part A;2020-07-09