TAB2 variants cause cardiovascular heart disease, connective tissue disorder and developmental delay

2021 ◽  
Author(s):  
Jennifer Hanson ◽  
Daniel Brezavar ◽  
Susan Hughes ◽  
Shivarajan Amudhavalli ◽  
Emily Fleming ◽  
...  
Keyword(s):  
Heart Disease ◽  
Connective Tissue ◽  
Developmental Delay ◽  
Connective Tissue Disorder ◽  
Cardiovascular Heart Disease

scholarly journals Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14

2010 ◽  
Vol 47 (10) ◽  
pp. 717-720 ◽  
Author(s):  
H. Van Esch ◽  
E. M. Rosser ◽  
S. Janssens ◽  
I. Van Ingelghem ◽  
B. Loeys ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Developmental Delay ◽  
Connective Tissue Disorder

scholarly journals Atypical presentation of rheumatoid arthritis: a case of massive bilateral pleural effusions in a patient with Caplan syndrome

2019 ◽  
Vol 12 (10) ◽  
pp. e231899
Author(s):  
Yinglun Wu ◽  
Philip C Dittmar
Keyword(s):  
Rheumatoid Arthritis ◽  
Atrial Fibrillation ◽  
Pleural Effusion ◽  
Connective Tissue ◽  
Minimal Change Disease ◽  
Connective Tissue Disorder ◽  
Minimal Change ◽  
Atypical Presentation ◽  
Pleural Effusions ◽  
Recent Treatment

Rheumatoid arthritis (RA) is a common connective tissue disorder affecting the synovial joints. In patients with RA, involvement of the lungs occurs in 30%–40% of cases while pleural effusions occur in only 3%–5%. However, the majority of RA-associated pleural effusions are small, unilateral and asymptomatic. We present a case of massive bilateral pleural effusions in a patient with established rheumatoid pneumoconiosis (Caplan syndrome). Interestingly, the pleural effusion occurred following recent treatment for minimal change disease and atrial fibrillation.

scholarly journals Risk and Prevalence of Developmental Delay in Young Children With Congenital Heart Disease

PEDIATRICS ◽  
2014 ◽  
Vol 133 (3) ◽  
pp. e570-e577 ◽  
Author(s):  
K. A. Mussatto ◽  
R. G. Hoffmann ◽  
G. M. Hoffman ◽  
J. S. Tweddell ◽  
L. Bear ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Young Children ◽  
Developmental Delay ◽  
Congenital Heart
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