Literature DB >> 3098708

[Cerebro-oculo-muscular syndrome].

R Mielke, J H Lu, S Kowalewski.   

Abstract

The case of a newborn with COMS is reported. The patient presented hydrocephalus, malformations of the eye and congenital myopathy. Typical pathological changes are interpreted as belonging to type II lissencephaly. Relationships to other similar but not identical syndromes are discussed.

Entities:  

Mesh:

Year:  1986        PMID: 3098708

Source DB:  PubMed          Journal:  Helv Paediatr Acta        ISSN: 0018-022X


  2 in total

1.  Lissencephaly.

Authors:  R Mielke; J H Lu; S Kowalewski
Journal:  Eur J Pediatr       Date:  1988-05       Impact factor: 3.183

2.  Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping.

Authors:  B Cormand; K Avela; H Pihko; P Santavuori; B Talim; H Topaloglu; A de la Chapelle; A E Lehesjoki
Journal:  Am J Hum Genet       Date:  1999-01       Impact factor: 11.025

  2 in total

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