scholarly journals A novel mutation in COL3A1 associates to vascular Ehlers–Danlos syndrome with predominant musculoskeletal involvement

2021 ◽  
Author(s):  
Federica Ruscitti ◽  
Lucia Trevisan ◽  
Giulia Rosti ◽  
Fabio Gotta ◽  
Annalia Cianflone ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome ◽  
Musculoskeletal Involvement

scholarly journals Ehlers-Danlos Syndrome Type IV and a Novel Mutation of the Type III Procollagen Gene as a Cause of Abdominal Apoplexy

2002 ◽  
Vol 77 (8) ◽  
pp. 861-863 ◽  
Author(s):  
Imran Hassan ◽  
Todd E. Rasmussen ◽  
Ulrike Schwarze ◽  
Peter S. Rose ◽  
David A.H. Whiteman ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Syndrome Type ◽  
Ehlers Danlos Syndrome ◽  
Type Iii ◽  
Type Iv ◽  
Type Iii Procollagen ◽  
Danlos Syndrome

scholarly journals Novel mutation in the CHST14 gene causing musculocontractural type of Ehlers-Danlos syndrome

2018 ◽  
pp. bcr-2018-226165 ◽  
Author(s):  
Sapna Sandal ◽  
Anupriya Kaur ◽  
Inusha Panigrahi
Keyword(s):  
Connective Tissue ◽  
Novel Mutation ◽  
Connective Tissue Disorder ◽  
Rare Disorder ◽  
Compound Heterozygous Mutation ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Bleeding Tendency ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome

Musculocontractural type of Ehlers-Danlos syndrome (MC-EDS) is a recently recognised connective tissue disorder. MC-EDS is caused by homozygous or compound heterozygous mutation in the carbohydrate sulfotransferase 14 (CHST14) gene on chromosome 15q15. Herein, we report a case of a 3-year-old boy with MC-EDS in whom a novel mutation in the CHST14 gene was discovered. Besides being the second report of this rare disorder from India, the child till 3 years has not had any bleeding tendency as described in the earlier reports of this disorder.

A novel mutation in the vascular Ehlers-Danlos syndrome: a case presenting with colonic perforations

2006 ◽  
Vol 41 (8) ◽  
pp. e27-e30 ◽  
Author(s):  
Billur Demirogullari ◽  
Ramazan Karabulut ◽  
Arzu Demirtola ◽  
Bilge Karabulut ◽  
I. Hakki Gol ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome

Early venous manifestation of Ehlers–Danlos syndrome Type IV through a novel mutation in COL3A1

2013 ◽  
Vol 22 (6) ◽  
pp. 488-492 ◽  
Author(s):  
Heiko Wendorff ◽  
Jaroslav Pelisek ◽  
Alexander Zimmermann ◽  
Karin Mayer ◽  
Heide Seidel ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Syndrome Type ◽  
Ehlers Danlos Syndrome ◽  
Type Iv ◽  
Danlos Syndrome

Ehlers-Danlos Syndrome, Kyphoscoliotic Type (Formerly Type VI) as Differential Diagnosis to Neuromuscular Diseases

2016 ◽  
Vol 47 (S 01) ◽  
Author(s):  
M. Schroth ◽  
C. Reihle ◽  
M. Wachowsky ◽  
L. Travan ◽  
M. Buob ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Neuromuscular Diseases ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome
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