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Bibliografía
[1.]
E. Bermejo Sánchez, M.L. Martínez Frías.
Vigilancia epidemiológica de anomalías congénitas. Boletín del ECEMC.
Revista de Dismorfología y Epidemiología, 3 (1998), pp. 37-116
[2.]
P.L. Tavormina, R. Shiang, L.M. Thompson, Y.Z. Zhu, J.D. Wilking, R.S. Lachman.
Thanathophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.
Nat Genet, 9 (1995), pp. 321-328
[3.]
L. Nat Genet, C. Benoist-Lasselin, A.L. Delezoide, A. Munnich, J. Bonaventure.
Fibroblast growth factor receptor 3 mutations promote apoptosis but do not alter chondrocyte proliferation in thanatophoric dysplasia.
J Biol Chem, 273 (1998), pp. 13007-13014
[4.]
M. Hilbert, K. Hilbert, J. Spranger, G. Wildhart, A. Winterpacht, C. Wuchner.
Hypochondroplasia, achondroplasia, and thanatophoric dysplasia caused by mutations of the fibroblast growth-factor-receptor-3-gene (FGFR3).
Monatsschr Kinderheilkd, 146 (1998), pp. 687-694
[5.]
J. Bonaventure, F. Rousseau, L. Legeai-Mallet, M. Le Merrer, A. Munnich, P. Maroteaux.
Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism.
Am J Med Genet, 63 (1996), pp. 148-154
[6.]
M.L. Martínez Frías, M.A. Ramos Arroyo, J. Salvador.
Thanatophoric dysplasia: an autosomal dominant conditionα.
Am J Med Genet, 31 (1988), pp. 815-820
[7.]
I.M. Orioli, E.E. Castilla, G. Scarano, P. Mastroiacovo.
Effect of paternal age in achondroplasia, thanatophoric dysplasia and osteogenesis imperfecta.
Am J Med Genet, 59 (1995), pp. 209-217
[8.]
J.H. Hersh, F.F. Yen, S.C. Peiper, M.J. Barch, O.A. Yacoobs, D.H. Voss.
De novo 1:10 balanced traslocation in an infant with thanatophoric dysplasia: a clue to the locus of the candidate gene.
Am J Med Genet, 32 (1995), pp. 293-295
[9.]
W.S. Gun, T.T. Hsu, S.Y. Chang, J.C. Chang, C.C. Huang.
Second trimester diagnosis of thanatophoric dysplasia.
Chang Keng I Hsueh, 19 (1996), pp. 258-263
[10.]
D.W. Smith.
JIMS, (1989),
[11.]
G. Corsello, E. Maresi, C. Rossi, L. Giuffré, E. Cittadini.
Thanatophoric dysplasia in monocygotic twins discordant for cloverleaf skull: prenatal diagnosis, clinical and pathological findings.
Am J Med Genet, 42 (1992), pp. 122-126
[12.]
O.M. Faye-Petersen, A.S. Knisely.
Neural arch stenosis and spinal cord injury in thanatophoric dysplasia.
Am J Dis Child, 145 (1991), pp. 87-89
[13.]
G.A. Rouse, R.A. Filly, F. Toomey, G.L. Grube.
Short-limb skeletal dysplasias: evaluation of the fetal spine with sonography and radiography.
Radiology, 174 (1990), pp. 177-180
[14.]
T. Todros, A. Sciarrone, G. Voglino, G. Botta, G. Camera.
Prenatal diagnosis of thanathoforic dysplasia at the 20 th week of pregnancy using ultrasonography.
Pathologica, 87 (1995), pp. 723-725
[15.]
R.E. Brenner, A. Nerlich, R. Terinde, P. Bartmann.
In vitro studies on clonal growth of chondrocytes in thanatophoric dysplasia.
Am J Med Genet, 63 (1996), pp. 401-405
[16.]
A.G. Nerlich, P. Freisinger, J. Bonaventure.
Radiological and histological variants of thanatophoric dysplasia are associated with common mutations in FGFR-3.
Am J Med Genet, 63 (1996), pp. 155-160
[17.]
C.L. Coulter, R.W. Leech, R.A. Brumback, G.B. Schaefer.
Cerebral abnormalities in thanatophoric dysplasia.
Child Nerv Syst, 7 (1991), pp. 21-26
[18.]
P. Escriva Tomás, F. Clemente Yago, L.F. López Peña.
Enanismos letales: tres entidades diferentes.
An Esp Pediatr, 34 (1991), pp. 305-309
[19.]
A.V. Fajardo Carmona, I. Pascual Castroviejo.
Cráneo en hoja de trébol. Presentación de cuatro casos.
An Esp Pediatr, 9 (1976), pp. 105-110
[20.]
A. Ureta Huertos, E. Gómez Castillo, J.A. Alonso Martín, M. Jiménez Gutiérrez, R. Fernández Espino.
Enanismo tanatóforo. Presentación de un caso.
An Esp Pediatr, 10 (1977), pp. 215-222
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