Literature DB >> 8244509

Cole-Carpenter's syndrome.

R K Marwaha1, B Sarkar, S Katariya, K Jayshree.   

Abstract

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Year:  1993        PMID： 8244509     DOI： 10.1007/bf02822197

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


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  1 in total

1.  Bone fragility, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features: a newly recognized type of osteogenesis imperfecta.

Authors:  D E Cole; T O Carpenter
Journal:  J Pediatr       Date:  1987-01       Impact factor: 4.406
  1 in total
  1 in total

1.  Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta.

Authors:  Lutz Garbes; Kyungho Kim; Angelika Rieß; Heike Hoyer-Kuhn; Filippo Beleggia; Andrea Bevot; Mi Jeong Kim; Yang Hoon Huh; Hee-Seok Kweon; Ravi Savarirayan; David Amor; Purvi M Kakadia; Tobias Lindig; Karl Oliver Kagan; Jutta Becker; Simeon A Boyadjiev; Bernd Wollnik; Oliver Semler; Stefan K Bohlander; Jinoh Kim; Christian Netzer
Journal:  Am J Hum Genet       Date:  2015-02-12       Impact factor: 11.025
  1 in total

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