A Life-Threatening Complication in a Patient with Ehlers-Danlos Syndrome Musculocontractural Type

A Life-Threatening Complication in a Patient with Ehlers-Danlos Syndrome Musculocontractural Type

Ehlers Danlos syndrome musculocontractural type (mcEDS) is a rare hereditary connective tissue disorder caused by biallelic pathogenic variants in the CHST14 or dermatan sulfate (DS) epimerase genes resulting in defective DS biosynthesis. It is characterized by congenital malformations and contractu...

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Bibliographic Details
Main Authors: Tuğba Daşar, Sandra Donkervoort, Pelin Özlem Şimşek Kiper, Rahşan Göçmen, Gülen Eda Utine, Koray Boduroğlu, Carsten Bonnemann, Göknur Haliloğlu
Format: Article
Language:English
Published: Galenos Yayinevi 2022-09-01
Series:Journal of Pediatric Research
Subjects:
eds
ehlers-danlos syndrome musculocontractural type
chst14
dse
subcutaneous hematoma
Online Access: http://jpedres.org/archives/archive-detail/article-preview/a-life-threatening-complication-in-a-patient-with-/52816

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http://jpedres.org/archives/archive-detail/article-preview/a-life-threatening-complication-in-a-patient-with-/52816

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