Identification of a new TWIST mutation (7p21) with variable eyelid manifestations supports locus homogeneity of BPES at 3q22

[1] Amati P, 1996, AM J HUM GENET, V58, P1089

[2] A GENE FOR BLEPHAROPHIMOSIS-PTOSIS-EPICANTHUS INVERSUS SYNDROME MAPS TO CHROMOSOME 3Q23 [J]. HUMAN GENETICS, 1995, 96 (02) : 213 - 215

[3] BIANCHI DW, 1981, CLIN GENET, V19, P456

[4] The human H-twist gene is located at 7p21 and encodes a B-HLH protein that is 96% similar to its murine M-twist counterpart [J]. MAMMALIAN GENOME, 1996, 7 (12) : 915 - 917

[5] CARLO B, 1982, CLIN GENET, V21, P348

[6] MICRODELETION OF CHROMOSOME 7P SYNDROME OCULAR MANIFESTATIONS [J]. OPHTHALMIC PLASTIC AND RECONSTRUCTIVE SURGERY, 1995, 11 (02) : 139 - 141

[7] ElGhouzzi V, 1997, NAT GENET, V15, P42

[8] Gripp KW, 2000, HUM MUTAT, V15, P150, DOI 10.1002/(SICI)1098-1004(200002)15:2<150::AID-HUMU3>3.0.CO

[9] 2-D

[10] HARNARNORI Y, 1999, CELL, V96, P405

[1] Amati P, 1996, AM J HUM GENET, V58, P1089

[2] A GENE FOR BLEPHAROPHIMOSIS-PTOSIS-EPICANTHUS INVERSUS SYNDROME MAPS TO CHROMOSOME 3Q23 [J]. HUMAN GENETICS, 1995, 96 (02) : 213 - 215

[3] BIANCHI DW, 1981, CLIN GENET, V19, P456

[4] The human H-twist gene is located at 7p21 and encodes a B-HLH protein that is 96% similar to its murine M-twist counterpart [J]. MAMMALIAN GENOME, 1996, 7 (12) : 915 - 917

[5] CARLO B, 1982, CLIN GENET, V21, P348

[6] MICRODELETION OF CHROMOSOME 7P SYNDROME OCULAR MANIFESTATIONS [J]. OPHTHALMIC PLASTIC AND RECONSTRUCTIVE SURGERY, 1995, 11 (02) : 139 - 141

[7] ElGhouzzi V, 1997, NAT GENET, V15, P42

[8] Gripp KW, 2000, HUM MUTAT, V15, P150, DOI 10.1002/(SICI)1098-1004(200002)15:2<150::AID-HUMU3>3.0.CO

[9] 2-D

[10] HARNARNORI Y, 1999, CELL, V96, P405