Smith Magenis syndrome: First case of congenital heart defect in a patient with <i>Rai1</i> mutation-Reference-Cited by-同舟云学术

Smith Magenis syndrome: First case of congenital heart defect in a patient with Rai1 mutation

Published:2022-04-04 Issue:7 Volume:188 Page:2184-2186
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Onesimo Roberta¹²^ORCID,Delogu Angelica Bibiana²^ORCID,Blandino Rita²^ORCID,Leoni Chiara¹²^ORCID,Rosati Jessica³,Zollino Marcella⁴⁵^ORCID,Zampino Giuseppe¹²⁴^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. Mendel Laboratory, IRCCS Casa Sollievo della Sofferenza Rome Italy

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

5. 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.62740

Reference14 articles.

1. Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases

2. Smith–Magenis syndrome

3. RAI1 gene mutations: mechanisms of Smith–Magenis Syndrome

4. Smith-Magenis syndrome: clinical evaluation in seven Brazilian patients

5. Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)

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