Literature DB >> 15889277

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

Katarina Lehmann1, Stefan Mundlos, Peter Meinecke.   

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Year:  2005        PMID： 15889277     DOI： 10.1007/s00431-005-1680-5

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


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  6 in total

1.  p63 is a p53 homologue required for limb and epidermal morphogenesis.

Authors:  A A Mills; B Zheng; X J Wang; H Vogel; D R Roop; A Bradley
Journal:  Nature       Date:  1999-04-22       Impact factor: 49.962

Review 2.  The p63 gene in EEC and other syndromes.

Authors:  H G Brunner; B C J Hamel; H Van Bokhoven
Journal:  J Med Genet       Date:  2002-06       Impact factor: 6.318

3.  Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome.

Authors:  J Celli; P Duijf; B C Hamel; M Bamshad; B Kramer; A P Smits; R Newbury-Ecob; R C Hennekam; G Van Buggenhout; A van Haeringen; C G Woods; A J van Essen; R de Waal; G Vriend; D A Haber; A Yang; F McKeon; H G Brunner; H van Bokhoven
Journal:  Cell       Date:  1999-10-15       Impact factor: 41.582

4.  Hypomelanosis of Ito and ectrodactyly.

Authors:  V M Riccardi; S L Riccardi
Journal:  Cleft Palate J       Date:  1980-10

5.  A malformation complex of ectrodactyly, clefting and hypomelanosis of ito (incontinentia pigmenti achromians).

Authors:  R E Stewart; S Funderburk; Y Setoguchi
Journal:  Cleft Palate J       Date:  1979-10

6.  ADULT-syndrome: an autosomal-dominant disorder with pigment anomalies, ectrodactyly, nail dysplasia, and hypodontia.

Authors:  P Propping; K Zerres
Journal:  Am J Med Genet       Date:  1993-03-01
  6 in total

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