Clinical and genetic distinction of Schimke immuno‐osseous dysplasia and cartilage‐hair hypoplasia
- 14 July 2008
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics Part A
- Vol. 146A (15), 2013-2017
- https://doi.org/10.1002/ajmg.a.32406
Abstract
No abstract availableKeywords
This publication has 38 references indexed in Scilit:
- Type and Level of RMRP Functional Impairment Predicts Phenotype in the Cartilage Hair Hypoplasia–Anauxetic Dysplasia SpectrumAmerican Journal of Human Genetics, 2007
- An Essential Switch in Subunit Composition of a Chromatin Remodeling Complex during Neural DevelopmentNeuron, 2007
- Schimke immuno-osseous dysplasia: a clinicopathological correlationJournal of Medical Genetics, 2006
- Identification of multiple distinct Snf2 subfamilies with conserved structural motifsNucleic Acids Research, 2006
- Evolutionary Comparison Provides Evidence for Pathogenicity of RMRP MutationsPLoS Genetics, 2005
- Association of migraine‐like headaches with Schimke immuno‐osseous dysplasiaAmerican Journal of Medical Genetics Part A, 2005
- Identification of chromatin‐related protein interactions using protein microarraysProteomics, 2003
- Cartilage-hair hypoplasia — clinical manifestations in 108 Finnish patientsEuropean Journal of Pediatrics, 1993
- Skeletal growth in cartilage-hair hypoplasiaPediatric Radiology, 1992
- Schimke immuno-osseous dysplasia: A newly recognized multisystem diseaseThe Journal of Pediatrics, 1991