Genetic Diagnosis of Rare Diseases: Past and Present

Rare diseases are heterogeneous life-threatening or seriously debilitating conditions that affect < 1 in 2000 individuals, and most have a genetic component. The diagnostic process is usually based on classic clinical practices, such as physical examination, personal and family history (inheritan...

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Veröffentlicht in:	Advances in therapy 2020-05, Vol.37 (Suppl 2), p.29-37
Hauptverfasser:	Ramos-Fuentes, Feliciano, González-Meneses, Antonio, Ars, Elisabet, Hernández-Jaras, Julio
Format:	Artikel
Sprache:	eng
Schlagworte:	Cardiology Endocrinology Familial Hypophosphatemic Rickets - diagnosis Familial Hypophosphatemic Rickets - genetics Genetic Diseases, X-Linked - diagnosis Genetic Predisposition to Disease Health technology assessment Humans Internal Medicine Life Sciences & Biomedicine Medicine Medicine & Public Health Medicine, Research & Experimental Molecular Biology - methods Oncology Pharmacology & Pharmacy Pharmacology/Toxicology Rare Diseases - diagnosis Rare Diseases - genetics Research & Experimental Medicine Review Rheumatology Science & Technology
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