Literature DB >> 7395899

Autosomal recessive craniometaphyseal dysplasia.

V B Penchaszadeh, E R Gutierrez, E Figueroa.   

Abstract

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Year:  1980        PMID： 7395899     DOI： 10.1002/ajmg.1320050107

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  7 in total

Review 1.  International classification of osteochondrodysplasias. The International Working Group on Constitutional Diseases of Bone.

Authors:  J Spranger
Journal:  Eur J Pediatr       Date:  1992-06       Impact factor: 3.183

2.  Craniometaphyseal dysplasia (CMD), autosomal dominant form.

Authors:  P Beighton
Journal:  J Med Genet       Date:  1995-05       Impact factor: 6.318

Review 3.  Craniotubular bone disorders.

Authors:  R J Gorlin
Journal:  Pediatr Radiol       Date:  1994

4.  Optic nerve sheath fenestration and bilateral expansile cranioplasty for raised intracranial pressure in craniometaphyseal dysplasia: a case report.

Authors:  Ash Singhal; David D Cochrane
Journal:  Childs Nerv Syst       Date:  2008-01-18       Impact factor: 1.475

Review 5.  The Erlenmeyer flask bone deformity in the skeletal dysplasias.

Authors:  Maha A Faden; Deborah Krakow; Fatih Ezgu; David L Rimoin; Ralph S Lachman
Journal:  Am J Med Genet A       Date:  2009-06       Impact factor: 2.802

6.  Bone marrow-derived osteoclast-like cells from a patient with craniometaphyseal dysplasia lack expression of osteoclast-reactive vacuolar proton pump.

Authors:  T Yamamoto; N Kurihara; K Yamaoka; K Ozono; M Okada; K Yamamoto; S Matsumoto; T Michigami; J Ono; S Okada
Journal:  J Clin Invest       Date:  1993-01       Impact factor: 14.808

7.  A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia.

Authors:  Ying Hu; I-Ping Chen; Salome de Almeida; Valdenize Tiziani; Cassio M Raposo Do Amaral; Kalpana Gowrishankar; Maria Rita Passos-Bueno; Ernst J Reichenberger
Journal:  PLoS One       Date:  2013-08-12       Impact factor: 3.240
  7 in total

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