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• W2896968291 abstract "Key Clinical Message 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 state‐of‐the‐art cardiac monitoring and appropriate symptomatic treatment for this rare disease." @default.
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• W2896968291 date "2018-10-15" @default.
• W2896968291 modified "2023-10-14" @default.
• W2896968291 title "Identification of a de novo case of <i>COL5A1</i> -related Ehlers-Danlos syndrome in an infant in the West Indies leading to improved targeted clinical care" @default.
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• W2896968291 doi "https://doi.org/10.1002/ccr3.1873" @default.
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