WNT1 Mutations in Families Affected by Moderately Severe and Progressive Recessive Osteogenesis Imperfecta-Reference-Cited by-同舟云学术

WNT1 Mutations in Families Affected by Moderately Severe and Progressive Recessive Osteogenesis Imperfecta

Published:2013-04 Issue:4 Volume:92 Page:590-597
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Pyott Shawna M.,Tran Thao T.,Leistritz Dru F.,Pepin Melanie G.,Mendelsohn Nancy J.,Temme Renee T.,Fernandez Bridget A.,Elsayed Solaf M.,Elsobky Ezzat,Verma Ishwar,Nair Sreelata,Turner Emily H.,Smith Joshua D.,Jarvik Gail P.,Byers Peter H.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference34 articles.

1. Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta;Lapunzina;Am. J. Hum. Genet.,2010

2. CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta;Morello;Cell,2006

3. Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta;Barnes;N. Engl. J. Med.,2006

4. Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta;Cabral;Nat. Genet.,2007

5. CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta;Baldridge;Hum. Mutat.,2008

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