A Life-Threatening Complication in a Patient with Ehlers-Danlos Syndrome Musculocontractural Type
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Published:2022-09-01
Issue:3
Volume:9
Page:297-301
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ISSN:2147-9445
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Container-title:The Journal of Pediatric Research
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language:
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Short-container-title:jpr
Author:
Daşar TuğbaORCID,
Donkervoort SandraORCID,
Şimşek Kiper Pelin ÖzlemORCID,
Göçmen RahşanORCID,
Utine Gülen EdaORCID,
Boduroğlu KorayORCID,
Bonnemann CarstenORCID,
Haliloğlu GöknurORCID
Publisher
Galenos Yayinevi
Reference10 articles.
1. The 2017 international classification of the Ehlers-Danlos syndromes;Malfait;Am J Med Genet C Semin Med Genet,2017
2. Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome;Dündar;Am J Hum Genet,2009
3. 3. Minatogawa M, Unzaki A, Morisaki H, et al. Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14). J Med Genet 2021: jmedgenet-2020-107623.
4. 4. Lautrup CK, Teik KW, Unzaki A, et al. Delineation of musculocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiency. Mol Genet Genomic Med 2020; 8:e1197.
5. 5. Janecke AR, Li B, Boehm M, et al. The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations. Am J Med Genet A 2016; 170A:103-15.
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