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Article

Let Time Teach You: A Case Report of a Double Diagnosis of 17P Duplication and Ehlers-Danlos Syndrome.

Genes - 23 Nov 2022

Castronovo Paola, Aleo Sebastiano, Seresini Agostino, Grilli Federico, Brunati Emilio, Marchisio Paola, Guez Sophie, Milani Donatella

Abstract excerpt

Kyphoscoliotic Ehlers-Danlos syndrome and 17p13.3 microduplication share multiple clinical features such as muscle hypotonia, cleft palate, and growth impairment. This paper describes a patient who was first diagnosed with the duplication and a decade later also with FKBP14-kEDS. The latter was initially overlooked due to the pathogenic significance attributed to the duplication and to the fact that, at the time...

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Identifiers

PMID: 36553464
DOI: 10.3390/genes13122197
PMCID: PMC9778043

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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