Localization of the gene for branchiootorenal syndrome to chromosome 8q

Branchiootorenal syndrome is an autosomal dominant disorder that affects an estimated 2% of profoundly deaf children. In addition to hearing impairment, it is characterized by a lop-ear deformity, preauricular pits, branchial cleft sinus tracts, and renal anomalies. The pathogenesis of the disease r...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Genomics (San Diego, Calif.) Calif.), 1992-12, Vol.14 (4), p.841-844
Hauptverfasser:	Smith, Richard J.H., Coppage, Kevin B., Ankerstjerne, Jennifer K.B., Capper, Dwayne T., Kumar, Shrawan, Kenyon, Judy, Tinley, Sue, Comeau, Kimberly, Kimberling, William J.
Format:	Artikel
Sprache:	eng
Schlagworte:	550400 - Genetics Abnormalities, Multiple - genetics BASIC BIOLOGICAL SCIENCES Biological and medical sciences BODY Chromosome Mapping CHROMOSOMES Chromosomes, Human, Pair 8 Complex syndromes CONGENITAL DISEASES DISEASES DNA, Satellite Ear - abnormalities Female GENETIC MAPPING Hearing Disorders - genetics HEREDITARY DISEASES HUMAN CHROMOSOME 8 HUMAN CHROMOSOMES Humans Kidney - abnormalities KIDNEYS Male MAPPING Medical genetics Medical sciences ORGANS PATHOGENESIS Pedigree Polymerase Chain Reaction Polymorphism, Genetic SENSE ORGANS DISEASES Syndrome
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Beschreibung
Zusammenfassung:	Branchiootorenal syndrome is an autosomal dominant disorder that affects an estimated 2% of profoundly deaf children. In addition to hearing impairment, it is characterized by a lop-ear deformity, preauricular pits, branchial cleft sinus tracts, and renal anomalies. The pathogenesis of the disease remains unknown; however, the defective gene has been localized to chromosome 8q by family linkage studies.
ISSN:	0888-7543 1089-8646
DOI:	10.1016/S0888-7543(05)80102-8