Prevalence Estimates of Rare Congenital Anomalies by Integrating Two Population-Based Registries in Tuscany, Italy

Public Health Genomics

Volumn 20, Issue 4, 2017, Pages 229-234

  Coi, Alessio ^a,b   Santoro, Michele ^a,b   Pierini, Anna ^a,b   Marrucci, Sonia ^b   Pieroni, Federica ^b   Bianchi, Fabrizio ^a,b  

^a INSTITUTE OF CLINICAL PHYSIOLOGY   (Italy)

^b FONDAZIONE TOSCANA GABRIELE MONASTERIO   (Italy)

Author keywords

Population based registries; Rare congenital anomalies; Rare diseases; Surveillance

Indexed keywords

ARTICLE; BILE DUCT ATRESIA; CHROMOSOME ABERRATION; CONGENITAL MALFORMATION; CONGENITAL SKIN DISEASE; DIGESTIVE SYSTEM DISEASE; EPIDERMOLYSIS BULLOSA; FACE DISORDER; HUMAN; INTEGRATION; ITALY; KABUKI MAKEUP SYNDROME; MAJOR CLINICAL STUDY; MONOGENIC DISORDER; MUSCULOSKELETAL DISEASE; NEUROLOGIC DISEASE; POPULATION BASED REGISTRY; PRENATAL DIAGNOSIS; PREVALENCE; PRIORITY JOURNAL; RARE DISEASE; REGISTER; SHORT STATURE; TUBEROUS SCLEROSIS; ABNORMALITIES; CONGENITAL DISORDER; FACE; HEMATOLOGIC DISEASE; MULTIPLE MALFORMATION SYNDROME; NEWBORN; VESTIBULAR DISORDER;

ABNORMALITIES, MULTIPLE; BILIARY ATRESIA; CONGENITAL ABNORMALITIES; FACE; HEMATOLOGIC DISEASES; HUMANS; INFANT, NEWBORN; ITALY; PRENATAL DIAGNOSIS; PREVALENCE; RARE DISEASES; REGISTRIES; TUBEROUS SCLEROSIS; VESTIBULAR DISEASES;

EID: 85035083847     PISSN: 16624246     EISSN: 16628063     Source Type: Journal    
DOI: 10.1159/000481358     Document Type: Article

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