Literature DB >> 1057461

A family with oculodentodigital dysplasia.

D M Weintraub, J L Baum, H M Pashayan.   

Abstract

Three members of a family present definite features of the oculodentodigital (ODD) dysplasia and one presents only a few features. The mother shows no clinical evidence of the syndrome but does have an isolated cleft of the palate. The syndrome is compatible with Mendelian autosomal dominant inheritance with father-to-son transmission. The variable expression of the gene in the three affected members is clearly demonstrable.

Entities:  

Mesh:

Year:  1975        PMID: 1057461

Source DB:  PubMed          Journal:  Cleft Palate J        ISSN: 0009-8701


  6 in total

1.  Oculodental digital dysplasia: neuroimaging in a kindred.

Authors:  L E Ginsberg; T Jewett; R Grub; W T McLean
Journal:  Neuroradiology       Date:  1996-01       Impact factor: 2.804

Review 2.  Craniotubular bone disorders.

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

3.  Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.

Authors:  William A Paznekas; Simeon A Boyadjiev; Robert E Shapiro; Otto Daniels; Bernd Wollnik; Catherine E Keegan; Jeffrey W Innis; Mary Beth Dinulos; Cathy Christian; Mark C Hannibal; Ethylin Wang Jabs
Journal:  Am J Hum Genet       Date:  2002-11-27       Impact factor: 11.025

4.  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

5.  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

6.  The Importance of Connexin 43 in Enamel Development and Mineralization.

Authors:  Sali Al-Ansari; Rozita Jalali; Lilian I Plotkin; Antonius L J J Bronckers; Pamela DenBesten; Yan Zhang; Judith E Raber-Durlacher; Jan de Lange; Frederik R Rozema
Journal:  Front Physiol       Date:  2018-06-26       Impact factor: 4.566

  6 in total

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