We report on nine individuals with the Pena-Shokeir syndrome. Clinical findings are compared with data on patients from the literature. Emphasis is made on genetic background, neuropathological findings, and (in two cases) on prenatal data. Possible pathogenetic mechanisms are discussed.
Cantú syndrome: Report of nine new cases and expansion of the clinical phenotype
✍ Scribed by Ingrid Scurr; Louise Wilson; Melissa Lees; Stephen Robertson; Edwin Kirk; Anne Turner; John Morton; Alexa Kidd; Vandana Shashi; Christy Stanley; Margaret Berry; Alan D. Irvine; David Goudie; Claire Turner; Carole Brewer; Sarah Smithson
- Publisher
- John Wiley and Sons
- Year
- 2011
- Tongue
- English
- Weight
- 559 KB
- Volume
- 155
- Category
- Article
- ISSN
- 1552-4825
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