Publication: ARID1A-Associated Coffin-Siris Syndrome: A Rare Case Report with Steroid-Resistant Nephrotic Syndrome and Single Kidney
| creativeworkseries.issn | ISSN 1990-7974 eISSN 1990-7982 | |
| dc.contributor.author | SK, Md Habibullah | |
| dc.contributor.author | Naj, Mohsina | |
| dc.date.accessioned | 2025-10-13T10:38:46Z | |
| dc.date.available | 2025-10-13T10:38:46Z | |
| dc.date.issued | 2024 | |
| dc.description | Md Habibullah Sk Neonatologist, DM Neonatology, Senior Resident, Department of Neonatology, Institute of Post Graduate Medical Education & Research and SSKM Hospital, 244, A J C Bose Road, Kolkata-700020, India Mohsina Naj Paediatrician, Post Doctoral Trainee, Department of Nephrology, Institute of Post Graduate Medical Education & Research and SSKM Hospital, 244, A J C Bose Road, Kolkata-700020, India | |
| dc.description.abstract | Abstract: Coffin-Siris syndrome (CSS), a rare BAFopathy, is characterized by developmental delay, dysmorphic features, and variable anomalies. We report a 12-year-old boy with a novel ARID1A truncating mutation presenting with global developmental delay, facial dysmorphism, single kidney, and steroid-resistant nephrotic syndrome (SRNS). Genetic analysis confirmed a heterozygous p.Glu1017Ter mutation in ARID1A. This report expands the phenotypic spectrum of CSS by highlighting its association with glomerular disease, a previously unreported feature. | |
| dc.identifier | https://doi.org/10.60086/jnps1270 | |
| dc.identifier.uri | https://hdl.handle.net/20.500.14572/2643 | |
| dc.language.iso | en_US | |
| dc.publisher | Perinatal Society of Nepal (PESON) | |
| dc.subject | Coffin-Siris syndrome | |
| dc.subject | ARID1A | |
| dc.subject | Steroid-resistant nephrotic syndrome | |
| dc.subject | Single kidney | |
| dc.subject | Developmental delay | |
| dc.title | ARID1A-Associated Coffin-Siris Syndrome: A Rare Case Report with Steroid-Resistant Nephrotic Syndrome and Single Kidney | |
| dc.type | Article | |
| dspace.entity.type | Publication | |
| local.article.type | Case Report | |
| oaire.citation.endPage | 43 | |
| oaire.citation.startPage | 41 | |
| relation.isJournalIssueOfPublication | 798e27f7-3d37-44aa-9ed3-a51c72b3b870 | |
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