Gene: [08q2411/TRPS1] trichorhinophalangeal syndrome, type I; trichorhinophalangeal syndrome, type II (Langer-Giedion syndrome; MIM:150230); trichorhinophalangeal syndrome, recessive form (MIM:275500); [LGCR TRPS2 ]
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CAG |
Ludecke-1995 and Hou-1995 showed that the Langer-Giedion syndrome is a true contiguous gene syndrome due to loss of functional copies of both the TRPS1 (GEM:08q2411/TRPS1) and the EXT1 gene and that the EXT1 gene is distal to the TRPS1 gene." |
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REF |
LOC,CYG,PAT "Bowen &: Ann Genet, 28, 224-227, 1985 LOC,CYG,PAT "Brocas H &: Hum Genet, 74, 178-180, 1986 ABR,LOC,CYG "Buhler EM &: Clin Genet, 31, 273-275, 1987 ABR,LOC,CYG,PAT "Fryns JP, Van den Berghe H: Hum Genet, 74, 188-189, 1986 PAT,FOG "Giedion A &: Helv Paediat Acta, 28, 249-259, 1973 ABR,LOC,CYG "Hamers A &: Eur J Pediatr, 149, 618-620, 1990 CLO,LOC "Hou J &: Genomics, 29, 87-97, 1995 LIN,MAP,MOL "Ludecke &: CCG, 51, (HGM10), 1035, 1989 CLO,LOC "Ludecke H-J &: Hum Mol Genet, 4, 31-36, 1995 ABR,LOC,CYG "Marchau FE &: Am J Med Genet, 45, 450-455, 1993 ABR,LOC,CYG "Yamamoto Y &: Am J Med Genet, 32, 133-135, 1989 |
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KEY |
devd, bone |
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CLA |
coding, basic |
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LOC |
08 q24.11 |
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MIM |
MIM: 190350 |
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SYN |
LGCR TRPS2 |
