Key Diagnostic Finding in a Condition with Variable Clinical Presentations
This is an interesting case series on a very common genetic condition which are often diagnosed late as clinical signs are inconspicuous. We would like to highlight the principal clinical examination finding which led to diagnosis.
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| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2013-01-01
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| Series: | Case Reports in Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/2013/415463 |
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| _version_ | 1850216478507270144 |
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| author | Anju Sukumaran John Buchlis |
| author_facet | Anju Sukumaran John Buchlis |
| author_sort | Anju Sukumaran |
| collection | DOAJ |
| description | This is an interesting case series on a very common genetic condition which are often diagnosed late as clinical signs are inconspicuous. We would like to highlight the principal clinical examination finding which led to diagnosis. |
| format | Article |
| id | doaj-art-3c3a74edbd6c4d4ab57120bb14dd3bbb |
| institution | OA Journals |
| issn | 2090-6803 2090-6811 |
| language | English |
| publishDate | 2013-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pediatrics |
| spelling | doaj-art-3c3a74edbd6c4d4ab57120bb14dd3bbb2025-08-20T02:08:18ZengWileyCase Reports in Pediatrics2090-68032090-68112013-01-01201310.1155/2013/415463415463Key Diagnostic Finding in a Condition with Variable Clinical PresentationsAnju Sukumaran0John Buchlis1Department of Pediatric Endocrinology, Women and Children’s Hospital of Buffalo, 219 Bryant Street, Buffalo, NY 14222, USADepartment of Pediatric Endocrinology, Women and Children’s Hospital of Buffalo, 219 Bryant Street, Buffalo, NY 14222, USAThis is an interesting case series on a very common genetic condition which are often diagnosed late as clinical signs are inconspicuous. We would like to highlight the principal clinical examination finding which led to diagnosis.http://dx.doi.org/10.1155/2013/415463 |
| spellingShingle | Anju Sukumaran John Buchlis Key Diagnostic Finding in a Condition with Variable Clinical Presentations Case Reports in Pediatrics |
| title | Key Diagnostic Finding in a Condition with Variable Clinical Presentations |
| title_full | Key Diagnostic Finding in a Condition with Variable Clinical Presentations |
| title_fullStr | Key Diagnostic Finding in a Condition with Variable Clinical Presentations |
| title_full_unstemmed | Key Diagnostic Finding in a Condition with Variable Clinical Presentations |
| title_short | Key Diagnostic Finding in a Condition with Variable Clinical Presentations |
| title_sort | key diagnostic finding in a condition with variable clinical presentations |
| url | http://dx.doi.org/10.1155/2013/415463 |
| work_keys_str_mv | AT anjusukumaran keydiagnosticfindinginaconditionwithvariableclinicalpresentations AT johnbuchlis keydiagnosticfindinginaconditionwithvariableclinicalpresentations |