Gene: [05q3/TCOF1] treacle protein; Treacher Collins-Franceschetti syndrome 1 (mandibulofacial dysostosis); [TCS MFD1 ]


REF

LOC,CYG "Balestrazzi P &: Hum Genet, 64, 305-308, 1983
HIS,PHE,FOG "Book, Fraccaro: Acta Genet Statist Med, 5, 327-333, 1955
HIS,PHE,FOG "Collins ET: Trans Ophthal Soc UK, 20, 190-192, 1933
MGC,PND "Crane, Beaver: Am J Med Genet, 25, 251-255, 1986
FUN,MOU "Dixon J &: Hum Mol Genet, 6, 727-737, 1997
REV "Dixon MJ: Hum Mol Genet, 1996, 1391-1396, 1996
LOC "Dixon MJ &: AJHG, 52, 907-914, 1993
LOC,LIN,MAP "Dixon MJ &: AJHG, 49, N1, 17-22, 1991a
LIN,COM "Dixon MJ &: AJHG, 48, 274-280, 1991b
MUT "Edwards SJ &: AJHG, 60, 515-524, 1997
PND "Edwards SJ &: J Med Genet, 33, 603-606, 1996
HIS,PHE,FOG "Fazen &: Am J Dis Child, 113, 405-410, 1967
HIS,PHE,FOG "Franceschetti A, Klein D: Acta Ophthal, 27, 143-224, 1949
HIS,PHE,FOG "Herring &: Am J Med Genet, 3, 225-259, 1979
LIN,COM "Jabs EW &: Genomics, 11, 188-192, 1991a
LOC,LIN,MAP "Jabs EW &: Genomics, 11, 193-198, 1991b
FOG "Lowry &: Am J Med Genet, 22, 501-512, 1985
HIS,PHE,FOG "Rovin &: J Pediatr, 65, 215-221, 1964
PAT,MOD,MOU "Sulik &: Am J Med Genet, 27, 359-372, 1987
CLO,SEQ,STR,GEN,FUN,MUT,POL "Wise CA &: PNAS, 94, 3110-3115, 1997

SWI

 SWISSPROT: Q13428

KEY

bone, dent, devd

CLA

coding, basic

LOC

05 q32-33.1

MIM

 MIM: 154500

SYN

TCS MFD1