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Hajdu-Cheney syndrome: phenotypical progression with de-novo NOTCH2 mutation
- Source :
- Clinical dysmorphology. 23(3)
- Publication Year :
- 2014
- Subjects :
- Hajdu–Cheney syndrome
DNA Mutational Analysis
Molecular Sequence Data
Hajdu-Cheney Syndrome
Pathology and Forensic Medicine
Frameshift mutation
Medicine
Humans
Base sequence
Receptor, Notch2
Frameshift Mutation
Genetics (clinical)
Genetic Association Studies
Genetics
Base Sequence
business.industry
Disease progression
General Medicine
Middle Aged
medicine.disease
Phenotype
Radiography
Pediatrics, Perinatology and Child Health
Mutation (genetic algorithm)
Disease Progression
Female
Anatomy
business
Subjects
Details
- ISSN :
- 14735717
- Volume :
- 23
- Issue :
- 3
- Database :
- OpenAIRE
- Journal :
- Clinical dysmorphology
- Accession number :
- edsair.doi.dedup.....7eaeb3d7cd578d326059e878a0400082