Gene: [04p16/EVC] Ellis-van Creveld syndrome (6-fingered dwarfism); chondroectodermal dysplasia (mesoectodermal dysplasia);

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)."

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

KEY

devd, bone, card

CLA

unknown, basic

LOC

04 p16

MIM

MIM: 225500