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Genetic Testing for Rare Diseases

Rare diseases, or orphan diseases, are those that individually affect a small number of patients, but taken together affect over 300 million people worldwide. They are characterized by their etiological, diagnostic and evolutionary complexity, important morbi-mortality, with high levels of disabilit...

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Gespeichert in:
Format: Online
Sprache:Englisch
Veröffentlicht: MDPI - Multidisciplinary Digital Publishing Institute 2022
Schlagworte:
retina
inherited retinal diseases
syndrome
Turner syndrome
mosaicism
ring chromosomes
growth hormone deficiency
pituitary microadenoma
clinical genetics
early onset ataxia
dystonia
neurodevelopment
network analysis
bioinformatics
ataxia
phenotype
child
NGS
next generation sequencing
inborn errors of metabolism
lysosomal disorders
neuromuscular disease
genetic testing
whole exome sequencing
Prader–Willi syndrome
imprinting disorder
recombinant human growth hormone
insulin-like growth factor 1
HMGLD
HMGCL
HMG-CoA lyase deficiency
inherited metabolic diseases
familial hearing loss
multiple diagnoses
non-syndromic hearing loss
ACTG1
MYH9
genetic counselling
rare diseases
professional recognition
hearing loss
genetic diagnosis
SLC26A4
DFNB4
Tuvinians
Altaians
Southern Siberia
Russia
GSDME
DFNA5
single-exon CNV
n/a
thema EDItEUR::M Medicine and Nursing
Online-Zugang:ONIX_20220506_9783036537283_301
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