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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Millán, José edt Genetic Testing for Rare Diseases Basel MDPI - Multidisciplinary Digital Publishing Institute 2022 1 electronic resource (144 p.) text txt rdacontent computer c rdamedia online resource cr rdacarrier 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 disability that entail and hinder the development of a normal vital subject, not only in those who suffer from them, but also their families; therefore, a comprehensive social health approach is necessary to address this problem.About 80% of rare diseases have a genetic origin, mainly monogenic; thus, genetic testing is mandatory for the confirmation of clinical diagnostics and to ensure correct genetic counseling. Next-generation sequencing (NGS) has enabled a revolution in genetic diseases, specially in rare diseases. However, their complexity makes diagnoses difficult even with the advent of NGS.In this Special Issue, we present several examples of the complexity of genetic diagnosis for most of these diseases and the consequences that genetic testing implies for genetic counseling. There are examples of the genetic heterogeneity of hearing loss, some metabolic and lisosomal disorders, ataxia, Prader–Willi syndrome, and three comprehensive reviews on syndromic retinal dystrophies, the complexity of the molecular diagnosis of neuromuscular disorders, and the value of genetic counseling before and after a genetic test. English Medicine bicssc 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 3-0365-3728-7 3-0365-3727-9 Millán, José oth |
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English |
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Millán, José |
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Millán, José |
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Genetic Testing for Rare Diseases |
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Genetic Testing for Rare Diseases |
title_full |
Genetic Testing for Rare Diseases |
title_fullStr |
Genetic Testing for Rare Diseases |
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Genetic Testing for Rare Diseases |
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Genetic Testing for Rare Diseases |
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Genetic Testing for Rare Diseases |
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genetic testing for rare diseases |
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MDPI - Multidisciplinary Digital Publishing Institute |
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2022 |
physical |
1 electronic resource (144 p.) |
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3-0365-3728-7 3-0365-3727-9 |
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AT millanjose genetictestingforrarediseases |
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(CKB)5680000000037588 (oapen)https://directory.doabooks.org/handle/20.500.12854/81235 (EXLCZ)995680000000037588 |
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Genetic Testing for Rare Diseases |
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