Identification of a de novo case of COL5A1‐related Ehlers‐Danlos syndrome in an infant in the West Indies leading to improved targeted clinical care

A 1‐year‐old girl from an underserved community presented with irritability, pain, and delayed motor skills. Our genetics outreach program facilitated the diagnosis of Ehlers‐Danlos syndrome masquerading as developmental delay after noting hyperextensible skin. Diagnosis for this family allows for s...

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Detalles Bibliográficos
Autores principales: Wardeh, Amr, Jackson, Tyson, Nelson, Beverly, Ernst, Carl, Théroux, Jean‐François, Al‐Hertani, Walla, Sobering, Andrew K., Maj, Mary C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6230631/
https://www.ncbi.nlm.nih.gov/pubmed/30455932
http://dx.doi.org/10.1002/ccr3.1873

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6230631/
https://www.ncbi.nlm.nih.gov/pubmed/30455932
http://dx.doi.org/10.1002/ccr3.1873

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