Gene: [04p16/EVC] Ellis-van Creveld syndrome (6-fingered dwarfism); chondroectodermal dysplasia (mesoectodermal dysplasia);
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COM |
The HOX7/MSX1 gene (GEM:04p161/MSX1), which has been shown to be involved in murine craniofacial development, may represent a candidate gene for this disorder (Polymeropoulos-1996)." |
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REF |
PAT "Digilio MC &: Hum Genet, 96, 251-253, 1995 PAT,LIN,LOC "Francomano CA &: AJHG, 57, A191, 1995 PAT,FOG "McKusick VA &: Bull Johns Hopk Hosp, 115, 306-336, 1964 PAT,LIN,LOC "Polymeropoulos MH &: Genomics, 35, 1-5, 1996 PAT "Qureshi F &: Am J Med Genet, 45, 471-476, 1993 PAT "Spranger S, Tariverdian G: Clin Genet, 47, 217-220, 1995 |
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KEY |
devd, bone, card |
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CLA |
unknown, basic |
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LOC |
04 p16 |
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MIM |
MIM: 225500 |
