Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: clinical and radiographic delineation of a pleiotropic disorder.

Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: clinical and radiographic delineation of a pleiotropic disorder.

Item
http://www.wikidata.org/entity/Q51921461
Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review.Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature.Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive SurveyChildhood-onset autoimmune cytopenia as the presenting feature of biallelic ACP5 mutations.Enchondromatosis: insights on the different subtypes.Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the ACP5 gene.Response of knee fibrocartilage to joint destabilization.Severe Short Stature in Two Siblings as the Presenting Sign of ACP5 DeficiencyEnchondromatosis revisited: new classification with molecular basis.Type I interferonopathies--an expanding disease spectrum of immunodysregulation.Three cases of spondyloenchondrodysplasia (SPENCD) with systemic lupus erythematosus: a case series and review of the literature.Posttranslational Modification as a Critical Determinant of Cytoplasmic Innate Immune Recognition.Schimke immunoosseous dysplasia: defining skeletal features.A Case with Spondyloenchondrodysplasia Treated with Growth Hormone.Metaphyseal chondromatosis combined with D-2-hydroxyglutaric aciduria in four patients.Experience of a skeletal dysplasia registry in Turkey: a five-years retrospective analysis.
P2860

Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: clinical and radiographic delineation of a pleiotropic disorder.

Item
http://www.wikidata.org/entity/Q51921461
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年学术文章
@wuu
2006年学术文章
@zh
2006年学术文章
@zh-cn
2006年学术文章
@zh-hans
2006年学术文章
@zh-my
2006年学术文章
@zh-sg
2006年學術文章
@yue
2006年學術文章
@zh-hant
name
Spondyloenchondrodysplasia wit ...... ion of a pleiotropic disorder.
@en
Spondyloenchondrodysplasia wit ...... ion of a pleiotropic disorder.
@nl
type
label
Spondyloenchondrodysplasia wit ...... ion of a pleiotropic disorder.
@en
Spondyloenchondrodysplasia wit ...... ion of a pleiotropic disorder.
@nl
prefLabel
Spondyloenchondrodysplasia wit ...... ion of a pleiotropic disorder.
@en
Spondyloenchondrodysplasia wit ...... ion of a pleiotropic disorder.
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P356
P1433
P1476
Spondyloenchondrodysplasia wit ...... ion of a pleiotropic disorder.
@en
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698