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A Case Report of Shwachman‐Diamond Syndrome Caused by Heterozygous Variants in the EFL1 Gene and Literature Review
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| Published in: | Molecular Genetics & Genomic Medicine |
|---|---|
| Format: | Online Article RSS Article |
| Published: |
2026
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| Subjects: | |
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| _version_ | 1868553908600700929 |
|---|---|
| collection | WordPress RSS FRELIP Feed Integration |
| container_title | Molecular Genetics & Genomic Medicine |
| description | |
| discipline_display | Genetics |
| discipline_facet | Genetics |
| format | Online Article RSS Article |
| genre | Journal Article |
| id | rss_article:90933 |
| institution | FRELIP |
| journal_source_facet | Molecular Genetics & Genomic Medicine |
| last_indexed | 2026-06-20T21:44:11.953Z |
| publishDate | 2026 |
| publishDateSort | 2026 |
| record_format | rss_article |
| spellingShingle | A Case Report of Shwachman‐Diamond Syndrome Caused by Heterozygous Variants in the EFL1 Gene and Literature Review Genetics General Genetics |
| sub_discipline_display | General |
| sub_discipline_facet | General |
| subject_display | Genetics General Genetics |
| subject_facet | Genetics General Genetics |
| title | A Case Report of Shwachman‐Diamond Syndrome Caused by Heterozygous Variants in the EFL1 Gene and Literature Review |
| title_alt | Reporte de un Caso de Síndrome de Shwachman‐Diamond Causado por Variantes Heterocigotas en el Gen EFL1 y Revisión de la Literatura Un rapport de cas de syndrome de Shwachman-Diamond causé par des variants hétérozygotes du gène EFL1 et revue de la littérature Um Relato de Caso de Síndrome de Shwachman‐Diamond Causada por Variantes Heterozigóticas no Gene EFL1 e Revisão da Literatura |
| title_auth | A Case Report of Shwachman‐Diamond Syndrome Caused by Heterozygous Variants in the EFL1 Gene and Literature Review |
| title_es_txt | Reporte de un Caso de Síndrome de Shwachman‐Diamond Causado por Variantes Heterocigotas en el Gen EFL1 y Revisión de la Literatura |
| title_fr_txt | Un rapport de cas de syndrome de Shwachman-Diamond causé par des variants hétérozygotes du gène EFL1 et revue de la littérature |
| title_full | A Case Report of Shwachman‐Diamond Syndrome Caused by Heterozygous Variants in the EFL1 Gene and Literature Review |
| title_fullStr | A Case Report of Shwachman‐Diamond Syndrome Caused by Heterozygous Variants in the EFL1 Gene and Literature Review |
| title_full_unstemmed | A Case Report of Shwachman‐Diamond Syndrome Caused by Heterozygous Variants in the EFL1 Gene and Literature Review |
| title_pt_txt | Um Relato de Caso de Síndrome de Shwachman‐Diamond Causada por Variantes Heterozigóticas no Gene EFL1 e Revisão da Literatura |
| title_short | A Case Report of Shwachman‐Diamond Syndrome Caused by Heterozygous Variants in the EFL1 Gene and Literature Review |
| title_sort | a case report of shwachman‐diamond syndrome caused by heterozygous variants in the efl1 gene and literature review |
| topic | Genetics General Genetics |
| url | https://onlinelibrary.wiley.com/doi/10.1002/mgg3.70249?af=R |