Localization of the gene for branchiootorenal syndrome to chromosome 8q

Richard J.H. Smith; Kevin B. Coppage; Jennifer K.B. Ankerstjerne; Dwayne T. Capper; Shrawan Kumar; Judy Kenyon; Sue Tinley; Kimberly Comeau; William J. Kimberling

doi:10.1016/S0888-7543(05)80102-8

Localization of the gene for branchiootorenal syndrome to chromosome 8q

Richard J.H. Smith, Kevin B. Coppage, Jennifer K.B. Ankerstjerne, Dwayne T. Capper, Shrawan Kumar, Judy Kenyon, Sue Tinley, Kimberly Comeau, William J. Kimberling

Center for Sensory Neuroscience

Research output: Contribution to journal › Article › peer-review

51 Scopus citations

Abstract

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.

Original language	English (US)
Pages (from-to)	841-844
Number of pages	4
Journal	Genomics
Volume	14
Issue number	4
DOIs	https://doi.org/10.1016/S0888-7543(05)80102-8
State	Published - Dec 1992

ASJC Scopus subject areas

Genetics

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title = "Localization of the gene for branchiootorenal syndrome to chromosome 8q",

abstract = "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.",

author = "Smith, {Richard J.H.} and Coppage, {Kevin B.} and Ankerstjerne, {Jennifer K.B.} and Capper, {Dwayne T.} and Shrawan Kumar and Judy Kenyon and Sue Tinley and Kimberly Comeau and Kimberling, {William J.}",

year = "1992",

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AU - Smith, Richard J.H.

AU - Coppage, Kevin B.

AU - Ankerstjerne, Jennifer K.B.

AU - Capper, Dwayne T.

AU - Kumar, Shrawan

AU - Kenyon, Judy

AU - Tinley, Sue

AU - Comeau, Kimberly

AU - Kimberling, William J.

PY - 1992/12

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N2 - 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.

AB - 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.

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