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

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 <i>FKBP14</i>-kEDS....

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Bibliographic Details
Main Authors: Paola Castronovo, Sebastiano Aleo, Agostino Seresini, Federico Grilli, Emilio Brunati, Paola Marchisio, Sophie Guez, Donatella Milani
Format: Article
Language:English
Published: MDPI AG 2022-11-01
Series:Genes
Subjects:
Ehlers–Danlos syndrome
<i>FKBP14</i>
scoliosis
case report
Online Access:https://www.mdpi.com/2073-4425/13/12/2197

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