Literature DB >> 8403456

The breakpoints of the EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) confirmed to 7q11.21 and 9p12 by fluorescence in situ hybridization.

Y Fukushima, H Ohashi, T Hasegawa.   

Abstract

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Year:  1993        PMID： 8403456     DOI： 10.1111/j.1399-0004.1993.tb03843.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  10 in total

1.  Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype.

Authors:  V S Vervoort; D Viljoen; R Smart; G Suthers; B R DuPont; A Abbott; C E Schwartz
Journal:  J Med Genet       Date:  2002-12       Impact factor: 6.318

2.  Split Hand/Foot Malformation Associated with 7q21.3 Microdeletion: A Case Report.

Authors:  Aswini Sivasankaran; Ambika Srikanth; Pooja S Kulshreshtha; Deenadayalu Anuradha; Jayarama S Kadandale; Chandra R Samuel
Journal:  Mol Syndromol       Date:  2016-02-03

3.  Evidence for locus heterogeneity in human autosomal dominant split hand/split foot malformation.

Authors:  S E Palmer; S W Scherer; M Kukolich; E M Wijsman; L C Tsui; K Stephens; J P Evans
Journal:  Am J Hum Genet       Date:  1994-07       Impact factor: 11.025

4.  Ocular manifestations in a father and son with EEC syndrome.

Authors:  B Käsmann; K W Ruprecht
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1997-08       Impact factor: 3.117

5.  The phenotypic effects of chromosome rearrangement involving bands 7q21.3 and 22q13.3.

Authors:  A Slavotinek; E Maher; P Gregory; P Rowlandson; S M Huson
Journal:  J Med Genet       Date:  1997-10       Impact factor: 6.318

6.  Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts.

Authors:  L L Barrow; H van Bokhoven; S Daack-Hirsch; T Andersen; S E C van Beersum; R Gorlin; J C Murray
Journal:  J Med Genet       Date:  2002-08       Impact factor: 6.318

Review 7.  Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1.

Authors:  S W Scherer; P Poorkaj; T Allen; J Kim; D Geshuri; M Nunes; S Soder; K Stephens; R A Pagon; M A Patton
Journal:  Am J Hum Genet       Date:  1994-07       Impact factor: 11.025

8.  Ocular symptoms and signs in patients with ectodermal dysplasia syndromes.

Authors:  T Kaercher
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2004-02-13       Impact factor: 3.117

9.  Ectrodactyly, Ectodermal Dysplasia, Cleft Lip, and Palate (EEC Syndrome) with Tetralogy of Fallot: A Very Rare Combination.

Authors:  Deepak Sharma; Chetan Kumar; Sanjay Bhalerao; Aakash Pandita; Sweta Shastri; Pradeep Sharma
Journal:  Front Pediatr       Date:  2015-06-16       Impact factor: 3.418

Review 10.  Split hand/foot malformation genetics supports the chromosome 7 copy segregation mechanism for human limb development.

Authors:  Amar J S Klar
Journal:  Philos Trans R Soc Lond B Biol Sci       Date:  2016-12-19       Impact factor: 6.237
  10 in total

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