CRTAPmutation in a patient with Cole-Carpenter syndrome-Reference-Cited by-同舟云学术

CRTAPmutation in a patient with Cole-Carpenter syndrome

Published:2015-01-21 Issue:3 Volume:167 Page:587-591
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Balasubramanian Meena¹,Pollitt Rebecca C.²,Chandler Kate E.³,Mughal M. Z.⁴,Parker Michael J.¹,Dalton Ann²,Arundel Paul⁵,Offiah Amaka C.⁵,Bishop Nicholas J.⁵

Affiliation:

1. Sheffield Clinical Genetics Service; Sheffield Children's NHS Foundation Trust; UK

2. Sheffield Diagnostic Genetics Service; Sheffield Children's NHS Foundation Trust; UK

3. Manchester Centre for Genomic Medicine; Central Manchester University Hospitals NHS Foundation Trust; UK

4. Department of Paediatric Endocrinology; Royal Manchester Children's Hospital; Central Manchester University Hospitals NHS Foundation Trust; UK

5. Academic Unit of Child Health; University of Sheffield; UK

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference26 articles.

1. New case of Cole-Carpenter syndrome;Amor;Am J Med Genet,2000

2. CRTAP AND LEPRE1 mutations in recessive osteogenesis imperfecta;Baldridge;Hum Mutat,2008

3. Generalized connective tissue disease in Crtap-/- mouse;Baldridge;PLoS One,2010

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

5. Osteogenesis imperfecta with arthrogryposis multiplex congenita (Bruck syndrome)-evidence for possible autosomal recessive inheritance;Brady;Clin Dysmorphol,1997

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