Smith–Magenis syndrome: Report of morphological and new functional cardiac findings with review of the literature-Reference-Cited by-同舟云学术

Smith–Magenis syndrome: Report of morphological and new functional cardiac findings with review of the literature

Published:2021-04-03 Issue:7 Volume:185 Page:2003-2011
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Onesimo Roberta¹²^ORCID,Versacci Paolo³^ORCID,Delogu Angelica Bibiana²,De Rosa Gabriella²,Pugnaloni Flaminia³^ORCID,Blandino Rita²,Leoni Chiara¹²^ORCID,Calcagni Giulio⁴,Digilio Maria C.⁵,Zollino Marcella⁶⁷^ORCID,Marino Bruno³,Zampino Giuseppe¹²⁶^ORCID

Affiliation:

1. Rare Diseases Unit Fondazione Policlinico Universitario Agostino Gemelli–IRCCS Rome Italy

2. Pediatric Unit Fondazione Policlinico Universitario Agostino Gemelli–IRCCS Rome Italy

3. Department of Pediatrics, Obstetrics and Gynecology "Sapienza" University of Rome, Policlinico Umberto I Rome Italy

4. Department of Pediatric Cardiology and Cardiac Surgery Bambino Gesù Children's Hospital and Research Institute Rome Italy

5. Medical Genetics Unit Bambino Gesù Children's Hospital and Research Institute Rome Italy

6. Dipartimento Universitario Scienze della Vita e Sanità Pubblica, Sezione di Medicina Genomica Università Cattolica Sacro Cuore Rome Italy

7. Genetica Medica Fondazione Policlinico Universitario A. Gemelli IRCCS Rome Italy

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62196

Reference40 articles.

1. Smith-Magenis syndrome (interstitial deletion of chromosome 17p) and congenital heart disease

2. Smith-Magenis Syndrome: Report of Two Cases and Review of the Literature

3. Chromosome deletion 17pl 1.2 (Smith-Magenis syndrome) in seven new patients, four of whom had been referred for fragile-X investigation

4. Rai1 haploinsufficiency causes reduced Bdnf expression resulting in hyperphagia, obesity and altered fat distribution in mice and humans with no evidence of metabolic syndrome

5. Functional and cellular characterization of human Retinoic Acid Induced 1 (RAI1) mutations associated with Smith-Magenis Syndrome

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