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Hajdu-Cheney syndrome: phenotypical progression with de-novo NOTCH2 mutation.
- Source :
-
Clinical dysmorphology [Clin Dysmorphol] 2014 Jul; Vol. 23 (3), pp. 88-94. - Publication Year :
- 2014
- Subjects :
- Base Sequence
DNA Mutational Analysis
Disease Progression
Female
Frameshift Mutation
Genetic Association Studies
Hajdu-Cheney Syndrome genetics
Hajdu-Cheney Syndrome pathology
Humans
Middle Aged
Molecular Sequence Data
Radiography
Hajdu-Cheney Syndrome diagnostic imaging
Receptor, Notch2 genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1473-5717
- Volume :
- 23
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Clinical dysmorphology
- Publication Type :
- Academic Journal
- Accession number :
- 24608068
- Full Text :
- https://doi.org/10.1097/MCD.0000000000000034