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 Type 1 Caused by a Novel Mutation in the PEX7 Gene

2015 ◽  
Vol 7 (1) ◽  
pp. 69-72 ◽  
Author(s):  
Abdullah Çim ◽  
Salih Coşkun ◽  
Orhan Görükmez ◽  
Hatice Yüksel ◽  
Ünal Uluca ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Chondrodysplasia Punctata ◽  
Rhizomelic Chondrodysplasia Punctata

Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India

2010 ◽  
Vol 51 (1) ◽  
pp. 107-110 ◽  
Author(s):  
S. R. Phadke ◽  
N. Gupta ◽  
K. M Girisha ◽  
M. Kabra ◽  
M. Maeda ◽  
...  
Keyword(s):  
Chondrodysplasia Punctata ◽  
Rhizomelic Chondrodysplasia Punctata

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

Identification of a novel missense mutation of PEX7 gene in an Iranian patient with rhizomelic chondrodysplasia punctata type 1

Gene ◽  
2013 ◽  
Vol 518 (2) ◽  
pp. 461-466 ◽  
Author(s):  
Parisa Mohamadynejad ◽  
Kamran Ghaedi ◽  
Yousef Shafeghati ◽  
Ahmad Salamian ◽  
Somayeh Tanhaie ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Chondrodysplasia Punctata ◽  
Rhizomelic Chondrodysplasia Punctata ◽  
Iranian Patient

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 - 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
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