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1
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0020375673
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Spondylometepiphyseal dysplasia, Strudwick type
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Anderson CE, Sillence DO, Lachman RS, Toomey K, Bull M, Dorst JP, Rimoin DL (1982): Spondylometepiphyseal dysplasia, Strudwick type. Am J Med Genet 13: 243-256.
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Anderson, C.E.1
Sillence, D.O.2
Lachman, R.S.3
Toomey, K.4
Bull, M.5
Dorst, J.P.6
Rimoin, D.L.7
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2
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0017300480
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L'osteochondrodysplasia spondylo-epiphyso-metaphysaire type Irapa: Nouveau nanisme avec rachis and metatarsien courts
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Arias S, Mota M, Pinto-Cisternas J (1976): L'osteochondrodysplasia spondylo-epiphyso-metaphysaire type Irapa: nouveau nanisme avec rachis and metatarsien courts. Nouv Presse Med 5: 319-323.
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Nouv Presse Med
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Arias, S.1
Mota, M.2
Pinto-Cisternas, J.3
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3
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0028045099
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Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)
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Beighton P (1994): Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL). J Med Genet 31: 136-140.
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(1994)
J Med Genet
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Beighton, P.1
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4
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0027476350
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Spondylometa-epiphyseal dysplasia (SMED), short limb-hand type
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Borochowitz Z, Langer LO, Gruber HE, Lachman R, Bat-Miriam Katznelson M, Rimoin DL (1993): Spondylometa-epiphyseal dysplasia (SMED), short limb-hand type. Am J Med Genet 45: 320-326.
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(1993)
Am J Med Genet
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Borochowitz, Z.1
Langer, L.O.2
Gruber, H.E.3
Lachman, R.4
Bat-Miriam Katznelson, M.5
Rimoin, D.L.6
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5
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0028365447
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New X linked Spondyloepimetaphyseal dysplasia: Report on eight affected males in the same family
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Camera G, Stella G, Camera A (1994): New X linked Spondyloepimetaphyseal dysplasia: report on eight affected males in the same family. J Med Genet 31: 371-376.
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(1994)
J Med Genet
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Camera, G.1
Stella, G.2
Camera, A.3
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8
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0018947810
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Autosomal recessive spondyloepi-metaphyseal dysplasia (Irapa type) in a Mexican family
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Hernandez A, Ramirez ML, Nazara Z, Ocampo R, Ibarra B, Cantu JM (1980): Autosomal recessive spondyloepi-metaphyseal dysplasia (Irapa type) in a Mexican family. Am J Med Genet 5: 179-188.
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(1980)
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Hernandez, A.1
Ramirez, M.L.2
Nazara, Z.3
Ocampo, R.4
Ibarra, B.5
Cantu, J.M.6
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9
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0015952188
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Micromelic type of spondylo-metaphyseal dysplasia
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Kozlowski K (1974): Micromelic type of spondylo-metaphyseal dysplasia. Pediatr Radiol 2: 61-64.
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(1974)
Pediatr Radiol
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Kozlowski, K.1
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10
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0027509152
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Further delineation of spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type, with emphasis on diagnostic features
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Langer LO, Wolfson BJ, Scott CI, Reid CS, Schidlow DY Millar EA, Borns PF, Lubicky JP, Carpenter BLM (1993): Further delineation of spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type, with emphasis on diagnostic features. Am J Med Genet 45: 488-500.
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(1993)
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Langer, L.O.1
Wolfson, B.J.2
Scott, C.I.3
Reid, C.S.4
Schidlow, D.Y.5
Millar, E.A.6
Borns, P.F.7
Lubicky, J.P.8
Carpenter, B.L.M.9
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11
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0028020924
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An unknown Spondyloepimetaphyseal dysplasia with a positive sweat chloride test, sparse hair and mild facial dysmorphism
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Leonard NJ, Hughes HE (1994): An unknown Spondyloepimetaphyseal dysplasia with a positive sweat chloride test, sparse hair and mild facial dysmorphism. Clin Dysmorphol 3: 309-317.
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(1994)
Clin Dysmorphol
, vol.3
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Leonard, N.J.1
Hughes, H.E.2
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12
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0000539628
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A "new" form of spondylometaphyseal dysplasia
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Murdoch JL, Walker BA (1969): A "new" form of spondylometaphyseal dysplasia. Birth Defects Orig Art Ser V(4): 368-370.
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(1969)
Birth Defects Orig Art Ser
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Murdoch, J.L.1
Walker, B.A.2
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13
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0023132189
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Unusual cone shaped epiphyses in spondyloepiphyseal dysplasia
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Perri G, Vichi G, Pacini M, Jenuso R, Barolozzi G, Galzolari C (1987): Unusual cone shaped epiphyses in spondyloepiphyseal dysplasia. Pediatr Radiol 17: 223-225.
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(1987)
Pediatr Radiol
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Perri, G.1
Vichi, G.2
Pacini, M.3
Jenuso, R.4
Barolozzi, G.5
Galzolari, C.6
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14
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0027300399
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New form of spondyloepimetaphyseal dysplasia (SEMD) in Jewish family of Iraqi origin
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Shohat M, Lachman R, Carmi R, Bar Ziv J, Rimoin D (1993): New form of spondyloepimetaphyseal dysplasia (SEMD) in Jewish family of Iraqi origin. Am J Med Genet 46: 358-362.
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(1993)
Am J Med Genet
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Shohat, M.1
Lachman, R.2
Carmi, R.3
Bar Ziv, J.4
Rimoin, D.5
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15
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0018220679
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Complex spondylo-epi-metaphyseal dysplasia with severe platyspondyly in two brothers
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Tehranzadeh J, Khajavi A, Kozlowski K (1978): Complex spondylo-epi-metaphyseal dysplasia with severe platyspondyly in two brothers. Australas Radiol 22: 173-177.
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(1978)
Australas Radiol
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Tehranzadeh, J.1
Khajavi, A.2
Kozlowski, K.3
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16
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0029160584
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Dominant mutations in the type II collagen gene COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type
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Tiller GE, Polumbo PA, Weis MA, Bogaert R, Lachman RS, Cohn DH, Rimoin DL, Eyre DR (1995): Dominant mutations in the type II collagen gene COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type. Nature Genetics 11: 87-89.
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(1995)
Nature Genetics
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Tiller, G.E.1
Polumbo, P.A.2
Weis, M.A.3
Bogaert, R.4
Lachman, R.S.5
Cohn, D.H.6
Rimoin, D.L.7
Eyre, D.R.8
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17
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0025295907
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Hypotrichosis with spondyloepimetaphyseal dysplasia in three generations: A new autosomal dominant syndrome
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Whyte MP, Petersen DJ, McAlister WH (1990): Hypotrichosis with spondyloepimetaphyseal dysplasia in three generations: a new autosomal dominant syndrome. Am J Med Genet 36: 288-291.
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(1990)
Am J Med Genet
, vol.36
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Whyte, M.P.1
Petersen, D.J.2
McAlister, W.H.3
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