Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia-Reference-Cited by-同舟云学术

Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia

Published:2009-03 Issue:3 Volume:84 Page:307-315
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Krakow Deborah,Vriens Joris,Camacho Natalia,Luong Phi,Deixler Hannah,Funari Tara L.,Bacino Carlos A.,Irons Mira B.,Holm Ingrid A.,Sadler Laurie,Okenfuss Ericka B.,Janssens Annelies,Voets Thomas,Rimoin David L.,Lachman Ralph S.,Nilius Bernd,Cohn Daniel H.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference31 articles.

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2. The spondylometaphyseal dysplasias. A tentative classification;Maroteaux;Pediatr. Radiol.,1991

3. La dysostose spondylometaphisaire;Kozlowski;Presse Med.,1967

4. Spondylometaphyseal dysplasia;Kozlowski,1973

5. Kozlowski type spondylometaphyseal dysplasia: A case report with literature review;Nural;Diagn. Interv. Radiol.,2006

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