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Literature DB >> 5560051

Cataracts, microcephaly, kyphosis, and limited joint movement in two siblings: a new syndrome.

R B Lowry, R MacLean, D M McLean, B Tischler.

Abstract

Entities: Disease

Mesh：

Year: 1971 PMID： 5560051 DOI： 10.1016/s0022-3476(71)80114-2

Source DB: PubMed Journal: J Pediatr ISSN： 0022-3476 Impact factor: 4.406

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Cited

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15 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

Review 2. Physiological consequences of defects in ERCC1-XPF DNA repair endonuclease.

Authors: Siobhán Q Gregg; Andria Rasile Robinson; Laura J Niedernhofer
Journal: DNA Repair (Amst) Date: 2011-05-25

Review 3. Cockayne syndrome: Clinical features, model systems and pathways.

Authors: Ajoy C Karikkineth; Morten Scheibye-Knudsen; Elayne Fivenson; Deborah L Croteau; Vilhelm A Bohr
Journal: Ageing Res Rev Date: 2016-08-06 Impact factor: 10.895

4. 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

Cataracts, microcephaly, kyphosis, and limited joint movement in two siblings: a new syndrome.

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

Review 2. Physiological consequences of defects in ERCC1-XPF DNA repair endonuclease.

Review 3. Cockayne syndrome: Clinical features, model systems and pathways.

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

5. Early onset Cockayne's syndrome: case reports with neuropathological and fibroblast studies.

6. Anesthetic management of three pediatric cases with Pena-Shokeir syndrome.

7. Necropsy of original case of Lowry's syndrome.

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

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

10. Xeroderma pigmentosum--Cockayne syndrome complex: a further case.