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.

Detalles Bibliográficos
Autores principales: Sukumaran, Anju, Buchlis, John
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3748427/
https://www.ncbi.nlm.nih.gov/pubmed/23984150
http://dx.doi.org/10.1155/2013/415463
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author Sukumaran, Anju
Buchlis, John
author_facet Sukumaran, Anju
Buchlis, John
author_sort Sukumaran, Anju
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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.
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spelling pubmed-37484272013-08-27 Key Diagnostic Finding in a Condition with Variable Clinical Presentations Sukumaran, Anju Buchlis, John Case Rep Pediatr Case Report 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. Hindawi Publishing Corporation 2013 2013-08-05 /pmc/articles/PMC3748427/ /pubmed/23984150 http://dx.doi.org/10.1155/2013/415463 Text en Copyright © 2013 A. Sukumaran and J. Buchlis. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Sukumaran, Anju
Buchlis, John
Key Diagnostic Finding in a Condition with Variable Clinical Presentations
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
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3748427/
https://www.ncbi.nlm.nih.gov/pubmed/23984150
http://dx.doi.org/10.1155/2013/415463
work_keys_str_mv AT sukumarananju keydiagnosticfindinginaconditionwithvariableclinicalpresentations
AT buchlisjohn keydiagnosticfindinginaconditionwithvariableclinicalpresentations

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