Literature DB >> 2554729

CAMFAK syndrome: a demyelinating inherited disease similar to Cockayne syndrome.

D Talwar1, S A Smith.   

Abstract

CAMFAK syndrome is an inherited disease characterized by congenital cataracts, microcephaly, failure to thrive, and kyphoscoliosis with onset in early infancy. Its pathogenesis has not been clearly defined. We report on a patient with this syndrome and present evidence that it is a neurologic disease characterized by peripheral and central demyelination similar to that seen in Cockayne syndrome.

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Mesh：

Year:  1989        PMID： 2554729     DOI： 10.1002/ajmg.1320340212

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  5 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.  Cranial CT and MRI in diseases with DNA repair defects.

Authors:  P Demaerel; B E Kendall; D Kingsley
Journal:  Neuroradiology       Date:  1992       Impact factor: 2.804

3.  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

4.  Encephalopathy with intracerebral calcification, white matter lesions, growth hormone deficiency, microcephaly, and retinal degeneration: two sibs confirming a probably distinct entity.

Authors:  C G Bönnemann; P Meinecke; H Reich
Journal:  J Med Genet       Date:  1991-10       Impact factor: 6.318

5.  Are parents of children with Cockayne syndrome manifesting features of the disorder?: Case reports.

Authors:  Ali Al Kaissi; Mirya Kuranova; Nadezhda Pleskach; Vladimir Kenis; Nabil M Nassib; Franz Grill; Rudolf Ganger; Susanne Gerit Kircher
Journal:  Medicine (Baltimore)       Date:  2017-12       Impact factor: 1.817
  5 in total

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