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].
Details
Serval ID
serval:BIB_30078E4E8050
Type
Article: article from journal or magazin.
Publication sub-type
Letter (letter): Communication to the publisher.
Collection
Publications
Institution
Title
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].
Journal
American journal of medical genetics. Part A
ISSN
1552-4825 (Print)
ISSN-L
1552-4825
Publication state
Published
Issued date
15/06/2007
Peer-reviewed
Oui
Volume
143A
Number
12
Pages
1394-1395
Language
english
Notes
Publication types: Comment ; Letter
Publication Status: ppublish
Publication Status: ppublish
Keywords
Autoimmune Diseases/diagnosis, Autoimmune Diseases/genetics, Autoimmunity/genetics, Child, Preschool, Female, Humans, Male, Osteochondrodysplasias/diagnosis, Osteochondrodysplasias/genetics, Osteochondrodysplasias/immunology, Phenotype, Severe Combined Immunodeficiency/diagnosis, Severe Combined Immunodeficiency/genetics, Severe Combined Immunodeficiency/immunology
Pubmed
Web of science
Create date
14/03/2011 17:09
Last modification date
05/10/2019 6:08
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