Literature DB >> 3239580

Cerebellar infarction in a patient with Waardenburg syndrome.

S A Narod1, J Siegel-Bartelt, H J Hoffman.   

Abstract

We report on the occurrence of a basilar artery embolism in a 9-year-old boy with Waardenburg syndrome type I. We examined eight other relatives and found that dystopia canthorum was present in six. One of these also had a lumbar meningomyelocele. According to descriptions provided by the grandmother of the propositus, nine other relatives were also affected.

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Year:  1988        PMID: 3239580     DOI: 10.1002/ajmg.1320310424

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


  2 in total

1.  PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida.

Authors:  F A Hol; M P Geurds; S Chatkupt; Y Y Shugart; R Balling; C T Schrander-Stumpel; W G Johnson; B C Hamel; E C Mariman
Journal:  J Med Genet       Date:  1996-08       Impact factor: 6.318

2.  A frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndrome.

Authors:  F A Hol; B C Hamel; M P Geurds; R A Mullaart; F G Barr; R A Macina; E C Mariman
Journal:  J Med Genet       Date:  1995-01       Impact factor: 6.318

  2 in total

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