Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: Clinical and radiographic delineation of a pleiotropic disorder-Reference-Cited by-同舟云学术

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

Published:2006 Issue:6 Volume:140A Page:541-550
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Renella Raffaele,Schaefer Elke,LeMerrer Martine,Alanay Yasemin,Kandemir Nurgun,Eich Georg,Costa Teresa,Ballhausen Diana,Boltshauser Eugen,Bonafé Luisa,Giedion Andres,Unger Sheila,Superti-Furga Andrea

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference18 articles.

1. Metaphyseal enchondrodysplasia with 2-hydroxy-glutaric aciduria: observation of a third case and further delineation

2. Autosomal dominant inheritance of spondyloenchondrodysplasia

3. Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature

4. Possible heterogeneity in spondyloenchondrodysplasia: Quadriparesis, basal ganglia calcifications, and chondrocyte inclusions

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