Second trimester prenatal diagnosis of rhizomelic chondrodysplasia punctata type 1 on ultrasound findings

2009 ◽  
Vol 30 (2) ◽  
pp. 162-164 ◽  
Author(s):  
P. J. G. Zwijnenburg ◽  
K. L. Deurloo ◽  
H. R. Waterham ◽  
E. J. Meijers-Heijboer ◽  
J. M. G. van Vugt ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Chondrodysplasia Punctata ◽  
Second Trimester ◽  
Rhizomelic Chondrodysplasia Punctata ◽  
Ultrasound Findings

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

Antenatal diagnosis of rhizomelic chondrodysplasia punctata in the second trimester

1990 ◽  
Vol 13 (3) ◽  
pp. 380-382 ◽  
Author(s):  
R. G. F. Gray ◽  
A. Green ◽  
R. B. H. Schutgens ◽  
R. J. A. Wanders ◽  
P. A. Farndon ◽  
...  
Keyword(s):  
Antenatal Diagnosis ◽  
Chondrodysplasia Punctata ◽  
Second Trimester ◽  
Rhizomelic Chondrodysplasia Punctata

Prenatal diagnosis of rhizomelic chondrodysplasia punctata

1988 ◽  
Vol 8 (8) ◽  
pp. 571-576 ◽  
Author(s):  
S. Hoefler ◽  
G. Hoefler ◽  
A. B. Moser ◽  
P. A. Watkins ◽  
W. W. Chen ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Chondrodysplasia Punctata ◽  
Rhizomelic Chondrodysplasia Punctata

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

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

Neonatal Rhizomelic Chondrodysplasia Punctata Type 1

2017 ◽  
Vol 31 (4) ◽  
pp. 350-357 ◽  
Author(s):  
Jessica Landino ◽  
Amy J. Jnah ◽  
Desi M. Newberry ◽  
Sabine C. Iben
Keyword(s):  
Chondrodysplasia Punctata ◽  
Rhizomelic Chondrodysplasia Punctata
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