Literature DB >> 5820606

Oculodentodigital dysplasia.

S H Reisner, E Kott, B Bornstein, H Salinger, I Kaplan, R J Gorlin.   

Abstract

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Year:  1969        PMID： 5820606     DOI： 10.1001/archpedi.1969.02100040602013

Source DB:  PubMed          Journal:  Am J Dis Child        ISSN： 0002-922X


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  10 in total

1.  A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome.

Authors:  R J Richardson; S Joss; S Tomkin; M Ahmed; E Sheridan; M J Dixon
Journal:  J Med Genet       Date:  2006-07       Impact factor: 6.318

2.  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 3.  Gap junctions in inherited human disorders of the central nervous system.

Authors:  Charles K Abrams; Steven S Scherer
Journal:  Biochim Biophys Acta       Date:  2011-08-16

4.  An unusual syndrome of widened medullary cavities of the metacarpals and phalanges, aortic calcification and abnormal dentition.

Authors:  E B Singleton; D F Merten
Journal:  Pediatr Radiol       Date:  1973-03

5.  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 6.  Craniotubular bone disorders.

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

7.  [An unexplained syndrom with eye and tooth defects (author's transl)].

Authors:  W D Schäfer; H Schell-Wölker
Journal:  Albrecht Von Graefes Arch Klin Exp Ophthalmol       Date:  1974

8.  Oculodentodigital Syndrome with Syndactyly Type III in a Pakistani consanguineous family.

Authors:  Sumaira Nishat; Qaisar Mansoor; Amara Javaid; Muhammad Ismail
Journal:  J Dermatol Case Rep       Date:  2012-06-30

9.  X-linked dominant inherited diseases with lethality in hemizygous males.

Authors:  R Wettke-Schäfer; G Kantner
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

Review 10.  Genetics of microphthalmos.

Authors:  M Warburg
Journal:  Int Ophthalmol       Date:  1981-08       Impact factor: 2.031
  10 in total

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