Literature DB >> 14322785

[CRANIOMETAPHYSIAL DYSPLASIA (PYLE)].

J SPRANGER, K PAULSEN, W LEHMANN.   

Abstract

Entities:  

Keywords:  BONE DISEASES; CHILD; CHROMOSOME ABNORMALITIES; CONSANGUINITY

Mesh：

Year:  1965        PMID： 14322785

Source DB:  PubMed          Journal:  Z Kinderheilkd        ISSN： 0044-2917


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  3 in total

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

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

2.  Familial reciprocal C/18 translocation.

Authors:  H H Punnet; L Pinsky; A M Digeorge; R J Gorlin
Journal:  Am J Hum Genet       Date:  1966-11       Impact factor: 11.025

3.  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
  3 in total

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