Literature DB >> 97035

The cerebro-oculo-facio-skeletal syndrome.

R B Surana, J R Fraga, S M Sinkford.   

Abstract

Mesh：

Year:  1978        PMID： 97035     DOI： 10.1111/j.1399-0004.1978.tb01203.x

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


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  5 in total

1.  Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene.

Authors:  L B Meira; J M Graham; C R Greenberg; D B Busch; A T Doughty; D W Ziffer; D M Coleman; I Savre-Train; E C Friedberg
Journal:  Am J Hum Genet       Date:  2000-03-15       Impact factor: 11.025

2.  Intracranial calcifications in cerebro-oculo-facio-skeletal (COFS) syndrome.

Authors:  S L Linna; K Finni; S Similä; K Kouvalainen; J Laitinen
Journal:  Pediatr Radiol       Date:  1982

3.  Syndromes of microcephaly, microphthalmia, cataracts, and joint contractures.

Authors:  R M Winter; D Donnai; M D Crawfurd
Journal:  J Med Genet       Date:  1981-04       Impact factor: 6.318

4.  The syndrome of multiple ankyloses and facial anomalies. A neuropathologic analysis.

Authors:  R S Williams; L B Holmes
Journal:  Acta Neuropathol       Date:  1980       Impact factor: 17.088

Review 5.  Genetics of microphthalmos.

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

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