Gene: [07p212/TWIST] transcription factor Twist (Drosophila) homolog; acrocephalosyndactyly 3 (Saethre-Chotzen syndrome; ACS III; MIM:101400); [ACS3 SCS ]
PAT | The principal signs: acrocephaly, skull asymmetry, and mild syndactyly. |
REF | CLO,SEQ,LOC "Bourgeois P &: Mammal Genome, 7, 915-917,
1996 LIN,LOC "Brueton LA &: J Med Genet, 29, 681-685, 1992 MUT,PAT "El Ghouzzi V &: Nature Genet, 15, 42-46, 1997 SEQ,MUT,PAT "Howard TD &: Nature Genet, 15, 36-41, 1997 LIN,LOC "Lewanda AF &: AJHG, 55, 1195-1201, 1994a LIN,LOC "Lewanda AF &: Genomics, 19, 115-119, 1994b FOG,PAT "Marini R &: J Med Genet, 28, N2, 117-121, 1991 FOG,PAT "Niemann-Seyde SC &: Clin Genet, 40, N4, 271-276, 1991 LIN,LOC "Rose CS &: Hum Mol Genet, 3, 1405-1408, 1994 FOG,PAT "Russo &: Am J Med Genet, 39, N4, 482-485, 1991 LIN,LOC "van Herwerden L &: AJHG, 54, 669-674, 1994 MUT,PAT "Wang SM &: Gene, 187, 83-92, 1997 LIN,LOC "Wilkie AO &: J Med Genet, 32, 174-180, 1995 |
SWI | SWISSPROT: Q15672 |
KEY | devd, bone |
CLA | coding, basic |
LOC | 07 p21.2 |
MIM | MIM: 601622 |
SYN | ACS3 SCS |
