Literature DB >> 17497723

A new case of spondyloenchondrodysplasia with immune dysregulation confirms the pleiotropic nature of the disorder: comment on "A syndrome of immunodeficiency, autoimmunity, and spondylometaphyseal dysplasia" by M.L. Kulkarni, K. Baskar, and P.M. Kulkarni [2006].

Raffaele Renella, Andrea Superti-Furga.   

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Year:  2007        PMID： 17497723     DOI： 10.1002/ajmg.a.31755

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  2 in total

1.  Dysmorphic facies and diffuse posterior spine ankylosis in a patient with unusual form of spondyloenchondrodysplasia (Spranger type IV).

Authors:  Ali Al Kaissi; Farid Ben Chehida; Maher Ben Ghachem; Klaus Klaushofer; Franz Grill
Journal:  Eur Spine J       Date:  2012-09-30       Impact factor: 3.134

2.  Spinal and extraspinal deformities in a patient with dysspondyloenchondromatosis.

Authors:  Vladimir Kenis; Alexey Baindurashvili; Evgeniy Melchenko; Rudolf Ganger; Franz Grill; Ali Al Kaissi
Journal:  Ger Med Sci       Date:  2013-03-28
  2 in total

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