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European Journal of Pediatrics
Published in: European Journal of Pediatrics 8/2005

01-08-2005 | Short Report

An unusual combination of EEC syndrome and hypomelanosis Ito due to a p63 mutation

Authors: Katarina Lehmann, Stefan Mundlos, Peter Meinecke

Published in: European Journal of Pediatrics | Issue 8/2005

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Excerpt

We describe a condition comprising the EEC syndrome and linear skin hypopigmentation in a boy who was found to carry a missense mutation in p63. …
Literature
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Brunner HG, Hamel BC, Van Bokhoven (2002) The p63 gene in EEC and other syndromes. J Med Genet 39: 377–381PubMed
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Celli J, Duijf P, Hamel BCJ, Bamshad M, Kramer B, Smits APT, Newbury Ecob R, Hennekam RCM, van Buggenhout G, van Haeringen A, Woods CG, van Essen AJ, de Waal R, Vriend G, Haber DA, Yang A, McKeon F, Brunner HG, van Bokhoven H (1999) Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. Cell 99: 143–153PubMed
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Mills AA, Zheng B, Wang XJ, Vogel H, Roop DR, Bradley A (1999) P63 is a p53 homologue required for limb and epidermal morphogenesis. Nature 398: 708–713PubMed
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Propping P, Zerres K (1993) ADULT-syndrome: an autosomal-dominant disorder with pigment anomalies, ectrodactyly, nail dysplasia, and hypodontia. Am J Med Genet 45: 642–648PubMed
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Riccardi VM, Riccardi SL (1980) Hypomelanosis of Ito and ectrodactyly. Cleft Palate J 17: 337–339PubMed
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Stewart RE, Funderburk S, Setoguchi Y (1979) A malformation complex of ectrodactyly, clefting, and hypomelanosis of Ito (Incontinentia pigmenti achromians). Cleft Palate J 15: 358–362
Metadata
Title
An unusual combination of EEC syndrome and hypomelanosis Ito due to a p63 mutation
Authors
Katarina Lehmann
Stefan Mundlos
Peter Meinecke
Publication date
01-08-2005
Publisher
Springer-Verlag
Published in
European Journal of Pediatrics / Issue 8/2005
Print ISSN: 0340-6199
Electronic ISSN: 1432-1076
DOI
https://doi.org/10.1007/s00431-005-1680-5

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