One test for all : Whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver–Russell syndrome

Autor: Ulrike Schara, Stephanie Demuth, Matthias Begemann, György Fekete, Laima Ambrozaityte, Magdeldin Elgizouli, Alma Kuechler, Daniela Dey, Asmaa Kenawy, Robert Meyer, Christian Thomas Hübner, Thomas Eggermann, Birute Burnyte, Miriam Elbracht, Thomas Opladen, Carmen Schröder, Peter M. Kroisel
Přispěvatelé: University of Zurich, Eggermann, Thomas
Jazyk: angličtina
Rok vydání: 2021
Předmět:
0301 basic medicine
2716 Genetics (clinical)
10039 Institute of Medical Genetics
Genetic counseling
Medizin
lcsh:Medicine
610 Medicine & health
030105 genetics & heredity
DNA sequencing
Silver–Russell syndrome
03 medical and health sciences
Next generation sequencing
Exome Sequencing
Clinical heterogeneity
parasitic diseases
2736 Pharmacology (medical)
Humans
Medicine
Diagnostic detection rate
Pharmacology (medical)
Genetics (clinical)
Exome sequencing
Chromosome 7 (human)
Genetics
business.industry
Research
lcsh:R
Whole exome sequencing
next generation sequencing
diagnostic detection rate
whole exome sequencing
targeted multigene panel NGS
General Medicine
DNA Methylation
Uniparental Disomy
medicine.disease
Phenotype
Human genetics
Targeted multigene panel NGS
Silver-Russell Syndrome
030104 developmental biology
Molecular Diagnostic Techniques
570 Life sciences
biology
business
Zdroj: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Orphanet journal of rare diseases 16(1), 42 (2021). doi:10.1186/s13023-021-01683-x
Orphanet journal of rare diseases, London : BioMed Central Ltd., 2021, vol. 16, art. no. 42, p. [1-10]
ISSN: 1750-1172
Popis: Orphanet journal of rare diseases 16(1), 42 (2021). doi:10.1186/s13023-021-01683-x
Published by BioMed Central, London
Databáze: OpenAIRE
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