Literature DB >> 1424230

EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) is on 7p11.2-q21.3.

M B Qumsiyeh.   

Abstract

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Mesh：

Year:  1992        PMID： 1424230     DOI： 10.1111/j.1399-0004.1992.tb03149.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.  Bilateral split hand/foot malformation and inv(7)(p22q21.3).

Authors:  J M Cobben; J B Verheij; W H Eisma; P H Robinson; R P Zwierstra; B Leegte; S Castedo
Journal:  J Med Genet       Date:  1995-05       Impact factor: 6.318

3.  Split hand/split foot deformity and LADD syndrome in a family: overlap between the EEC and LADD syndromes.

Authors:  D Lacombe; F Serville; D Marchand; J Battin
Journal:  J Med Genet       Date:  1993-08       Impact factor: 6.318

Review 4.  Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.

Authors:  N Tommerup
Journal:  J Med Genet       Date:  1993-09       Impact factor: 6.318

Review 5.  Cleft hand/foot: clinical and developmental aspects.

Authors:  P W Buss
Journal:  J Med Genet       Date:  1994-09       Impact factor: 6.318

6.  A gene for autosomal dominant hypohidrotic ectodermal dysplasia (EDA3) maps to chromosome 2q11-q13.

Authors:  L Ho; M S Williams; R A Spritz
Journal:  Am J Hum Genet       Date:  1998-05       Impact factor: 11.025

7.  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

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.  Genetic basis of dental agenesis--molecular genetics patterning clinical dentistry.

Authors:  N Chhabra; M Goswami; A Chhabra
Journal:  Med Oral Patol Oral Cir Bucal       Date:  2014-03-01
  10 in total

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