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The value of whole exome sequencing for genetic diagnosis in a patient with Bloom syndrome.
- Source :
-
Journal of endocrinological investigation [J Endocrinol Invest] 2021 Jun; Vol. 44 (6), pp. 1331-1334. Date of Electronic Publication: 2020 Sep 29. - Publication Year :
- 2021
- Subjects :
- Brachydactyly diagnosis
Brachydactyly genetics
Child, Preschool
Contraindications, Drug
Diagnosis, Differential
Female
Genetic Association Studies
Growth Charts
Growth Hormone therapeutic use
Homozygote
Humans
Micrognathism diagnosis
Micrognathism genetics
Neoplasms etiology
Neoplasms prevention & control
Risk Reduction Behavior
Skin Abnormalities diagnosis
Skin Abnormalities genetics
Bloom Syndrome diagnosis
Bloom Syndrome genetics
Bloom Syndrome physiopathology
Bloom Syndrome therapy
Dwarfism diagnosis
Dwarfism drug therapy
Dwarfism genetics
Growth Hormone adverse effects
RecQ Helicases genetics
Exome Sequencing methods
Subjects
Details
- Language :
- English
- ISSN :
- 1720-8386
- Volume :
- 44
- Issue :
- 6
- Database :
- MEDLINE
- Journal :
- Journal of endocrinological investigation
- Publication Type :
- Academic Journal
- Accession number :
- 32996068
- Full Text :
- https://doi.org/10.1007/s40618-020-01433-z