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

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 init...

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Detalles Bibliográficos
Autores principales: Castronovo, Paola, Aleo, Sebastiano, Seresini, Agostino, Grilli, Federico, Brunati, Emilio, Marchisio, Paola, Guez, Sophie, Milani, Donatella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9778043/
https://www.ncbi.nlm.nih.gov/pubmed/36553464
http://dx.doi.org/10.3390/genes13122197

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9778043/
https://www.ncbi.nlm.nih.gov/pubmed/36553464
http://dx.doi.org/10.3390/genes13122197

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