Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis-Reference-Cited by-同舟云学术

Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis

Published:2015-02-03 Issue:7 Volume:45 Page:965-976
ISSN:0301-0449
Container-title:Pediatric Radiology
language:en
Short-container-title:Pediatr Radiol

Author:

Rossi Massimiliano,Hall Christine M.,Bouvier Raymonde,Collardeau-Frachon Sophie,Le Breton Frédérique,Bucourt Martine,Cordier Marie Pierre,Vianey-Saban Christine,Parenti Giancarlo,Andria Generoso,Le Merrer Martine,Edery Patrick,Offiah Amaka C.

Publisher

Springer Science and Business Media LLC

Subject

Radiology, Nuclear Medicine and imaging,Pediatrics, Perinatology and Child Health

Link

http://link.springer.com/content/pdf/10.1007/s00247-014-3257-9.pdf

Reference71 articles.

1. Porter FD, Herman GE (2011) Malformation syndromes caused by disorders of cholesterol synthesis. J Lipid Res 52:6–34

2. Offiah AC, Mansour S, Jeffrey I et al (2003) Greenberg dysplasia (HEM) and lethal X linked dominant Conradi–Hunermann chondrodysplasia punctata (CDPX2): presentation of two cases with overlapping phenotype. J Med Genet 40:e129

3. Horn LC, Faber R, Meiner A et al (2000) Greenberg dysplasia: first reported case with additional non-skeletal malformations and without consanguinity. Prenat Diagn 20:1008–1011

4. Konstantinidou A, Karadimas C, Waterham HR et al (2008) Pathologic, radiographic and molecular findings in three fetuses diagnosed with HEM/Greenberg skeletal dysplasia. Prenat Diagn 28:309–312

5. Trajkovski Z, Vrcakovski M, Saveski J et al (2002) Greenberg dysplasia (hydrops-ectopic calcification-moth-eaten skeletal dysplasia): prenatal ultrasound diagnosis and review of literature. Am J Med Genet 111:415–419

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