Perrault syndrome: Report of four new cases, review and exclusion of candidate genes-Reference-Cited by-同舟云学术

Perrault syndrome: Report of four new cases, review and exclusion of candidate genes

Published:2008 Issue:5 Volume:146A Page:661-664
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Marlin Sandrine,Lacombe Didier,Jonard Laurence,Leboulanger Nicolas,Bonneau Dominique,Goizet Cyril,Billette de Villemeur Thierry,Cabrol Sylvie,Houang Muriel,Moatti Lucien,Feldmann Delphine,Denoyelle Françoise

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference13 articles.

1. Gonadal dysgenesis as an autosomal recessive condition

2. Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene

3. Friedreich ataxia: an overview

4. Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling

5. Perrault syndrome: Evidence for progressive nervous system involvement

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