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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:
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