Gene: [09q/DFNB7] deafness, autosomal recessive 7;


COM

The phenotype and chromosomal map location are identical in the family of Jain-1995 (DFNB7) and in the family of Scott-1996 (GEM:09q/DFNB11) (although genetic map location is slightly different), so they may have the same disorder."

REF

LIN,LOC "Jain PK &: Hum Mol Genet, 4, 2391-2394, 1995
LIN,LOC "Scott DA &: AJHG, 59, 385-391, 1996
REV "Van Camp G &: AJHG, 60, 758-764, 1997

KEY

neu

CLA

unknown, basic

LOC

09 q13-21

MIM

MIM: 600974

Смотрите также:

  • Gene: [13q11/GJB2] gap junction protein, beta 2, 26 kD (connexin 26); deafness, autosomal dominant 3 (DFNA3; MIM:601544); deafness, autosomal recessive 1 (DFNB1; MIM:220290); [CX26 NSRD1 ]