Literature DB >> 825334

Further evidence for the autosomal-recessive inheritance of the COFS syndrome.

I W Lurie, E D Cherstvoy, G I Lazjuk, M K Nedzved, S S Usoev.   

Abstract

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Mesh：

Year:  1976        PMID： 825334     DOI： 10.1111/j.1399-0004.1976.tb00059.x

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


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  6 in total

1.  Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy.

Authors:  J M Graham ; K Anyane-Yeboa; A Raams; E Appeldoorn; W J Kleijer; V H Garritsen; D Busch; T G Edersheim; N G Jaspers
Journal:  Am J Hum Genet       Date:  2001-07-03       Impact factor: 11.025

2.  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

3.  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

4.  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

5.  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 6.  Genetics of microphthalmos.

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

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