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Klippel-Feil syndrome as a novel feature of Schimke immunoosseous dysplasia
- Source :
- American Journal of Medical Genetics Part A. 179:862-863
- Publication Year :
- 2019
- Publisher :
- Wiley, 2019.
- Subjects :
- Nephrotic Syndrome
Genotype
Arteriosclerosis
Primary Immunodeficiency Diseases
Klippel–Feil syndrome
Osteochondrodysplasias
Genetics
medicine
Humans
Genetic Predisposition to Disease
Alleles
Genetic Association Studies
Genetics (clinical)
SCHIMKE IMMUNOOSSEOUS DYSPLASIA
business.industry
DNA Helicases
Exons
Anatomy
medicine.disease
Phenotype
Klippel-Feil Syndrome
Feature (computer vision)
Child, Preschool
Female
Pulmonary Embolism
business
Subjects
Details
- ISSN :
- 15524825
- Volume :
- 179
- Database :
- OpenAIRE
- Journal :
- American Journal of Medical Genetics Part A
- Accession number :
- edsair.doi.dedup.....9d3499ad085be6100ed57130060baa3a
- Full Text :
- https://doi.org/10.1002/ajmg.a.61087