Dyssegmental dysplasia, Silverman-Handmaker type: prenatal ultrasound findings and molecular analysis-Reference-Cited by-同舟云学术

Dyssegmental dysplasia, Silverman-Handmaker type: prenatal ultrasound findings and molecular analysis

Published:2013-08-04 Issue:11 Volume:33 Page:1039-1043
ISSN:0197-3851
Container-title:Prenatal Diagnosis
language:en
Short-container-title:Prenat Diagn

Author:

Ladhani Noor Niyar N.¹,Chitayat David²³,Nezarati Marjan M.⁴,Laureane Mittaz Crettol⁵,Keating Sarah⁶,Silver Rachel J.²,Unger Sheila⁵,Velsher Lea⁴,Sirkin Wilma⁷,Toi Ants⁸,Glanc Phyllis⁹

Affiliation:

1. Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynaecology; Sunnybrook Health Sciences Centre, University of Toronto; Toronto Canada

2. The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynaecology; Mount Sinai Hospital, University of Toronto; Toronto Canada

3. Division of Clinical and Metabolic Genetics, Department of Pediatrics; The Hospital for Sick Children, University of Toronto; Toronto Canada

4. Department of Medical Genetics; North York General Hospital, University of Toronto; Toronto Canada

5. Division of Molecular Pediatrics, Maternité; Centre Hospitalier Universitaire Vaudois; Lausanne Switzerland

6. Department of Pathology; Mount Sinai Hospital, University of Toronto; Toronto Canada

7. Department of Pathology; North York General Hospital, University of Toronto; Toronto Canada

8. Division of Diagnostic Imaging; Mount Sinai Hospital, University of Toronto; Toronto Canada

9. Department of Medical Imaging; Sunnybrook Health Sciences Centre, University of Toronto; Toronto Canada

Publisher

Wiley

Subject

Genetics (clinical),Obstetrics and Gynecology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/pd.4193/fullpdf

Reference16 articles.

1. Dyssegmental dwarfism: a new syndrome of lethal dwarfism;Handmaker;Birth Defects Orig Artic Ser,1977

2. Dyssegmental dysplasias: clinical, radiographic, and morphologic evidence of heterogeneity;Aleck;Am J Med Genet,1987

3. Nosology and classification of genetic skeletal disorders: 2010 revision;Warman;Am J Med Genet A,2011

4. Dyssegmental dysplasia, Silverman-Handmaker type, is caused by functional null mutations of the perlecan gene;Arikawa-Hirasawa;Nat Genet,2001

5. Dyssegmental dysplasia, Silverman-Handmaker type: unexpected role of perlecan in cartilage development;Arikawa-Hirasawa;Am J Med Genet,2001

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