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Detailed Courses and Pathological Findings of Colonic Perforation without Diverticula in Sisters with Musculocontractural Ehlers–Danlos Syndrome Caused by Pathogenic Variant in CHST14 (mcEDS-CHST14)

Musculocontractural Ehlers–Danlos syndrome (mcEDS) is a heritable connective tissue disorder characterized by multiple congenital malformations and progressive connective-tissue-fragility-related manifestations in the cutaneous, skeletal, cardiovascular, visceral, ocular, and gastrointestinal system...

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Detalles Bibliográficos
Autores principales:	Kobayashi, Tomoko, Fujishima, Fumiyoshi, Tokodai, Kazuaki, Sato, Chiaki, Kamei, Takashi, Miyake, Noriko, Matsumoto, Naomichi, Kosho, Tomoki
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10218258/ https://www.ncbi.nlm.nih.gov/pubmed/37239439 http://dx.doi.org/10.3390/genes14051079

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