Char Syndrome, an Inherited Disorder With Patent Ductus Arteriosus, Maps to Chromosome 6p12-p21 | Zendy

Masahiko Satoda | Zendy; Mary Ella Pierpont | Zendy; George A. Díaz | Zendy; Renee A. Bornemeier | Zendy; Bruce D. Gelb | Zendy

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Char Syndrome, an Inherited Disorder With Patent Ductus Arteriosus, Maps to Chromosome 6p12-p21

Author(s) -

Masahiko Satoda,

Mary Ella Pierpont,

George A. Díaz,

Renee A. Bornemeier,

Bruce D. Gelb

Publication year - 1999

Publication title -

circulation

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 7.795

H-Index - 607

eISSN - 1524-4539

pISSN - 0009-7322

DOI - 10.1161/01.cir.99.23.3036

Subject(s) - genetics , ductus arteriosus , locus (genetics) , haplotype , genetic linkage , candidate gene , craniofacial , medicine , positional cloning , chromosome , disease gene identification , gene , heart disease , biology , phenotype , genotype , pathology , exome sequencing , cardiology

Patent ductus arteriosus (PDA) is a relatively common form of congenital heart disease. Although polygenic inheritance has been implicated, no specific gene defects causing PDA have been identified to date. Thus, a positional cloning strategy was undertaken to determine the gene responsible for the Char syndrome, an autosomal dominant disorder characterized by PDA, facial dysmorphism, and hand anomalies.

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