Literature DB >> 10901979

Metaphyseal chondrodysplasia, type Jansen.

K Kozlowski1, J B Campbell, M E Azouz, P Sprague.   

Abstract

The Jansen type of metaphyseal dysplasia is a rare disorder with significant clinical and radiographic variability. Two cases of classical Jansen disease and one with some distinctive features suggestive of the Jansen variant are reported.

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Year:  1999        PMID: 10901979     DOI: 10.1046/j.1440-1673.1999.00729.x

Source DB:  PubMed          Journal:  Australas Radiol        ISSN: 0004-8461


  2 in total

1.  Jansen Metaphyseal Chondrodysplasia due to Heterozygous H223R-PTH1R Mutations With or Without Overt Hypercalcemia.

Authors:  Sheela Nampoothiri; Eduardo Fernández-Rebollo; Dhanya Yesodharan; Thomas J Gardella; Eric T Rush; Craig B Langman; Harald Jüppner
Journal:  J Clin Endocrinol Metab       Date:  2016-07-13       Impact factor: 5.958

2.  A new acro-osteolysis syndrome caused by duplications including PTHLH.

Authors:  Mary J Gray; Margriet van Kogelenberg; Rachel Beddow; Tim Morgan; Paul Wordsworth; Deborah J Shears; Stephen P Robertson; Jane A Hurst
Journal:  J Hum Genet       Date:  2014-07-10       Impact factor: 3.172

  2 in total

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