scholarly journals A Novel Variant in the AGPS Gene Causes the Rare Rhizomelic Chondrodysplasia Punctata Type 3: A Case Report

Cureus ◽  
2021 ◽  
Author(s):  
Aiman M Shawli ◽  
Abdulaziz T Nazer ◽  
Yasir Khayyat ◽  
Mohammed G Alqurashi ◽  
Fahad Hakami
Keyword(s):  
Case Report ◽  
Chondrodysplasia Punctata ◽  
Rhizomelic Chondrodysplasia Punctata ◽  
Novel Variant ◽  
Type 3

scholarly journals RHIZOMELIC CHONDRODYSPLASIA PUNCTATA: A RARE CASE REPORT

2015 ◽  
Vol 4 (04) ◽  
pp. 711-715
Author(s):  
Yashodhara P ◽  
Elizabeth B ◽  
MadhavI N ◽  
Deeva Kuma B ◽  
Tirupathi Reddy A
Keyword(s):  
Case Report ◽  
Rare Case ◽  
Chondrodysplasia Punctata ◽  
Rhizomelic Chondrodysplasia Punctata ◽  
Rare Case Report

Rhizomelic chondrodysplasia punctata type 1 and fulminant neonatal respiratory failure, a case report and discussion of pathophysiology

2011 ◽  
Vol 155 (12) ◽  
pp. 3160-3163 ◽  
Author(s):  
Gretchen Oswald ◽  
Cathleen Lawson ◽  
Gerald Raymond ◽  
W. Christopher Golden ◽  
Nancy Braverman
Keyword(s):  
Case Report ◽  
Respiratory Failure ◽  
Chondrodysplasia Punctata ◽  
Rhizomelic Chondrodysplasia Punctata

scholarly journals Rhizomelic chondrodysplasia punctata - case report

2003 ◽  
Vol 79 (2) ◽  
pp. 189-92 ◽  
Author(s):  
Gilberto Pascolat ◽  
José L. Zindeluk ◽  
Karen C. Abrão ◽  
Fabiana M. Rodrigues ◽  
Carolina I. M. Guedes
Keyword(s):  
Case Report ◽  
Chondrodysplasia Punctata ◽  
Rhizomelic Chondrodysplasia Punctata

Hepatocellular carcinoma, syncytial giant cell: a novel variant in children: a case report

2007 ◽  
Vol 11 (1) ◽  
pp. 61-63 ◽  
Author(s):  
A. Atra ◽  
R. Al-Asiri ◽  
S. Wali ◽  
H. Al-Husseini ◽  
A Al-Bassas ◽  
...  
Keyword(s):  
Hepatocellular Carcinoma ◽  
Case Report ◽  
Giant Cell ◽  
Novel Variant
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