Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies-Reference-Cited by-同舟云学术

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Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies

Published:2005-01-10 Issue:1 Volume:133A Page:61-67
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Zankl Andreas,Neumann Luitgard,Ignatius Jaako,Nikkels Peter,Schrander-Stumpel Connie,Mortier Geert,Omran Heymut,Wright Michael,Hilbert Katja,Bonafé Luisa,Spranger Juergen,Zabel Bernhard,Superti-Furga Andrea

Funder

European Skeletal Dysplasia Network (ESDN)

Swiss Federal Office for Science and Education (Grant BBW)

Swiss National Science Foundation

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference18 articles.

1. Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations;Brodie;Am J Med Genet,1999

2. Type II collagenopathies: Are there additional family members?;Freisinger;Am J Med Genet,1996

3. Further heterogeneity within lethal neonatal short-limbed dwarfism: The platyspondylic types;Horton;J Pediatr,1979

4. Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E;Johnson;Am J Hum Genet,2003

5. Torrance type of lethal neonatal short-limbed platyspondylic dwarfism;Kaibara;Skeletal Radiol,1983

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