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Vol. 63. Núm. 6.
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Síndrome de distiquiasis y linfedema
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C. Guerrero Laleona
Autor para correspondencia
cguerrero12@hotmail.com
desireeportilla@hotmail.com

Correspondencia: Dr. C. Guerrero Laleona. Servicio de Pediatría. Hospital de Alcañiz. Dr. Repollès, 2. 44600 Alcañiz. Teruel. España.
, S. Gimeno Aguilar, D. Portilla Córdova, A. Honrrubia Grijalbo
Servicio de Pediatría. Hospital de Alcañiz. Teruel. España
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Bibliografía
[1.]
J. Fang, S.L. Adueñáis, R.P. Erickson, M.F. Arlt, M.W. Glynn, J.L. Gorski, et al.
Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distiquiasis syndrome.
Am J Hum Genet, 67 (2000), pp. 1382-1388
[2.]
D.N. Finegold, M.A. Kimak, E.C. Lawrence, K.L. Levison, E.M. Chemiske, B.R. Pober, et al.
Truncating mutations in FOXC2 cause multiple lymphedema syndromes.
Hum Mol Genet, 10 (2001), pp. 1185-1189
[3.]
R.P. Erickson, S.L. Dagenias, M.S. Caulder, C.A. Downs, G. Herman, M.C. Jones, et al.
Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations.
J Med Genet, 38 (2001), pp. 761-766
[4.]
B.P. Brooks, S.L. Dagenais, C.C. Nelson, M.W. Glynn, M.S. Caulder, C.A. Dowws, et al.
Mutation of the FOXC2 gene in familial distichiasis.
J AAPOS, 7 (2003), pp. 354-357
[5.]
Z. Pap, T. Biro, L. Szabo, Z. Papp.
Syndrome of lymphoedema and distichiasis.
Hum Genet, 53 (1980), pp. 309-310
[6.]
G. Brice, S. Mansour, R. Bell, J.R. Collin, A.H. Child, A.F. Brady, et al.
Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in74 patients with FOXc2 mutation or linkage to 16q24.
J Med Genet, 39 (2002), pp. 478-483
[7.]
H.J. Shammas, K.F. Tabbara, V.M. Der Kaloustian.
Distichiasis of the lids and lymphedema of the lower extremities: a report of ten cases.
J Pediatr Ophtalmol Strabismus, 16 (1979), pp. 129-132
[8.]
G. Brice.
Diagnostic difficulties in limphoedema-distichiasis.
Pediatric Dermatol, 20 (2003), pp. 89-90
Copyright © 2005. Asociación Española de Pediatría
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