Literature DB >> 14089388

A HEREDITARY SYNDROME: "DYSPLASIA OCULODENTODIGITALIS.

F D GILLESPIE.   

Abstract

Entities:  

Keywords:  ABNORMALITIES; ALOPECIA; CHILD; FINGERS; GENETICS, HUMAN; HAND DEFORMITIES; INFANT; NOSE DEFORMITIES; OPHTHALMOLOGY; TOOTH

Mesh：

Year:  1964        PMID： 14089388     DOI： 10.1001/archopht.1964.00970010203009

Source DB:  PubMed          Journal:  Arch Ophthalmol        ISSN： 0003-9950


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  10 in total

1.  Acquired corneal dystrophy; dysgenesis of the anterior segment of the eye, blue scleral band, oligodontia, and metacarpal dysplasia (dysplasia oculo-dento-digitalis?).

Authors:  H E Henkes
Journal:  Br J Ophthalmol       Date:  1965-10       Impact factor: 4.638

2.  Camptodactyly, cleft palate, and club foot. A syndrome showing the autosomal-dominant pattern of inheritance.

Authors:  H Gordon; D Davies; M Berman
Journal:  J Med Genet       Date:  1969-09       Impact factor: 6.318

3.  Three new cases of oculodentodigital (ODD) syndrome: development of the facial phenotype.

Authors:  M A Patton; K M Laurence
Journal:  J Med Genet       Date:  1985-10       Impact factor: 6.318

Review 4.  Craniotubular bone disorders.

Authors:  R J Gorlin
Journal:  Pediatr Radiol       Date:  1994

5.  Dyscephaly with congenital cataract.

Authors:  A el Massri
Journal:  Br J Ophthalmol       Date:  1967-05       Impact factor: 4.638

Review 6.  Variable expression of neurological phenotype in autosomal recessive oculodentodigital dysplasia of two sibs and review of the literature.

Authors:  Shelagh K Joss; Sam Ghazawy; Susan Tomkins; Mushtaq Ahmed; John Bradbury; Eamonn Sheridan
Journal:  Eur J Pediatr       Date:  2007-05-03       Impact factor: 3.183

7.  The potency of the fs260 connexin43 mutant to impair keratinocyte differentiation is distinct from other disease-linked connexin43 mutants.

Authors:  Jared M Churko; Stephanie Langlois; Xinyue Pan; Qing Shao; Dale W Laird
Journal:  Biochem J       Date:  2010-08-01       Impact factor: 3.857

8.  The conditional connexin43G138R mouse mutant represents a new model of hereditary oculodentodigital dysplasia in humans.

Authors:  Radoslaw Dobrowolski; Philipp Sasse; Jan W Schrickel; Marcus Watkins; Jung-Sun Kim; Mindaugas Rackauskas; Clemens Troatz; Alexander Ghanem; Klaus Tiemann; Joachim Degen; Feliksas F Bukauskas; Roberto Civitelli; Thorsten Lewalter; Bernd K Fleischmann; Klaus Willecke
Journal:  Hum Mol Genet       Date:  2007-11-13       Impact factor: 6.150

9.  Ectodermal dysplasia-cutaneous syndactyly syndrome maps to chromosome 7p21.1-p14.3.

Authors:  Muhammad Tariq; Muhammad Nasim Khan; Wasim Ahmad
Journal:  Hum Genet       Date:  2009-02-17       Impact factor: 4.132

10.  Oculodentodigital Dysplasia: A Case Report and Major Review of the Eye and Ocular Adnexa Features of 295 Reported Cases.

Authors:  Virang Kumar; Natario L Couser; Arti Pandya
Journal:  Case Rep Ophthalmol Med       Date:  2020-04-04
  10 in total

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