Gene: [02q31/HOXD13] homeo box D13(4I), homologous to mouse Hox-4.9; synpolydactyly (syndactyly type II; MIM:186000); [HOX5 HOX4I ]


FAG

See FAM:HOXD/02q31.

PAT

Synpolydactyly is an autosomal dominant limb anomality involving webbing between digits and duplication of fingers. Typical features include fusion between digits III and IV and the presence of an additional finger or toe in between."

REF

GEN,SEQ "Akarsu AN &: Hum Mol Genet, 5, 945-952, 1996
PAT,FOG "Akarsu AN &: J Med Genet, 32, 435-441, 1995
PAT,NOM,FOG "Cross HE &: AJHG, 20, 368-380, 1968
PRO,LOC,FAG "D'Esposito M &: Genomics, 10, 43-50, 1991
PRO,LOC,FAG "Lu-Kuo J &: Genomics, 16, 173-179, 1993
PAT,NOM,FOG "Merlob P, Grunebaum M: J Med Genet, 23, 237-241, 1986
MUT,PAT,SEQ "Muragaki Y &: Science, 272, 548-551, 1996a
PAT,MUT "Muragaki Y &: Science, 272, 548-551, 1996b
PAT,LOC,LIN "Sarfarazi M &: Hum Mol Genet, 4, 1453-1458, 1995
PAT,FOG "Sayli BS &: J Med Genet, 32, 421-434, 1995
PRO,LOC,FAG "Scott MP &: Cell, 71, 551-553, 1992
MOD,MOU "Zakany J, Duboule D: Nature, 384, 69-71, 1996

KEY

ont, onc, trc, bone, devd

CLA

coding, basic

LOC

02 q31

MIM

MIM: 142989

SYN

HOX5 HOX4I

Смотрите также:

  • Gene: [HOXD/02q31] homeo box region D, gene cluster on chr 2q31; (HOXD1 HOXD3 HOXD4 HOXD8 HOXD9 HOXD10 HOXD11 HOXD12 HOXD13)