TY - JOUR
T1 - Localization of the gene for branchiootorenal syndrome to chromosome 8q
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
Y1 - 1992/12
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.
UR - http://www.scopus.com/inward/record.url?scp=0027083268&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0027083268&partnerID=8YFLogxK
U2 - 10.1016/S0888-7543(05)80102-8
DO - 10.1016/S0888-7543(05)80102-8
M3 - Article
C2 - 1478663
AN - SCOPUS:0027083268
VL - 14
SP - 841
EP - 844
JO - Genomics
JF - Genomics
SN - 0888-7543
IS - 4
ER -