Genetic Testing for Rare Diseases

• Awduron Eraill: Millán, José (Golygydd)
• Fformat: Electronig Pennod Llyfr
• Iaith: Saesneg
• Cyhoeddwyd: Basel MDPI - Multidisciplinary Digital Publishing Institute 2022
• Pynciau: Medicine; 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
• Mynediad Ar-lein: DOAB: download the publication; DOAB: description of the publication

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...