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A rare case of pediatric cardiomyopathy: Alström syndrome identified by gene panel analysis
Genetic investigation of early‐onset Dilatative cardiomyopathy phenotype, including molecular autopsy, is the key to appropriate recognition and management of rare etiologies and atypical presentations and to offer genetic counseling to the family.
| Autores principales: | , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7752570/ https://www.ncbi.nlm.nih.gov/pubmed/33363936 http://dx.doi.org/10.1002/ccr3.3327 |
| _version_ | 1783625893137088512 |
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| author | Spinelli, Valentina Girolami, Francesca Marrone, Chiara Consigli, Veronica Iascone, Maria Passantino, Silvia Porcedda, Giulio Calabri, Giovanni Battista De Simone, Luciano Olivotto, Iacopo Santoro, Giuseppe Favilli, Silvia |
| author_facet | Spinelli, Valentina Girolami, Francesca Marrone, Chiara Consigli, Veronica Iascone, Maria Passantino, Silvia Porcedda, Giulio Calabri, Giovanni Battista De Simone, Luciano Olivotto, Iacopo Santoro, Giuseppe Favilli, Silvia |
| author_sort | Spinelli, Valentina |
| collection | PubMed |
| description | Genetic investigation of early‐onset Dilatative cardiomyopathy phenotype, including molecular autopsy, is the key to appropriate recognition and management of rare etiologies and atypical presentations and to offer genetic counseling to the family. |
| format | Online Article Text |
| id | pubmed-7752570 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2020 |
| publisher | John Wiley and Sons Inc. |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-77525702020-12-23 A rare case of pediatric cardiomyopathy: Alström syndrome identified by gene panel analysis Spinelli, Valentina Girolami, Francesca Marrone, Chiara Consigli, Veronica Iascone, Maria Passantino, Silvia Porcedda, Giulio Calabri, Giovanni Battista De Simone, Luciano Olivotto, Iacopo Santoro, Giuseppe Favilli, Silvia Clin Case Rep Case Reports Genetic investigation of early‐onset Dilatative cardiomyopathy phenotype, including molecular autopsy, is the key to appropriate recognition and management of rare etiologies and atypical presentations and to offer genetic counseling to the family. John Wiley and Sons Inc. 2020-10-27 /pmc/articles/PMC7752570/ /pubmed/33363936 http://dx.doi.org/10.1002/ccr3.3327 Text en © 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made. |
| spellingShingle | Case Reports Spinelli, Valentina Girolami, Francesca Marrone, Chiara Consigli, Veronica Iascone, Maria Passantino, Silvia Porcedda, Giulio Calabri, Giovanni Battista De Simone, Luciano Olivotto, Iacopo Santoro, Giuseppe Favilli, Silvia A rare case of pediatric cardiomyopathy: Alström syndrome identified by gene panel analysis |
| title | A rare case of pediatric cardiomyopathy: Alström syndrome identified by gene panel analysis |
| title_full | A rare case of pediatric cardiomyopathy: Alström syndrome identified by gene panel analysis |
| title_fullStr | A rare case of pediatric cardiomyopathy: Alström syndrome identified by gene panel analysis |
| title_full_unstemmed | A rare case of pediatric cardiomyopathy: Alström syndrome identified by gene panel analysis |
| title_short | A rare case of pediatric cardiomyopathy: Alström syndrome identified by gene panel analysis |
| title_sort | rare case of pediatric cardiomyopathy: alström syndrome identified by gene panel analysis |
| topic | Case Reports |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7752570/ https://www.ncbi.nlm.nih.gov/pubmed/33363936 http://dx.doi.org/10.1002/ccr3.3327 |
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