Wilson disease in offspring of affected patients: Report of four French families
β Scribed by Dufernez, Fabienne; Lachaux, Alain; Chappuis, Philippe; De Lumley, Lionel; Bost, Muriel; Woimant, France; Misrahi, Micheline; Debray, Dominique
- Book ID
- 121907936
- Publisher
- Elsevier
- Year
- 2013
- Tongue
- French
- Weight
- 624 KB
- Volume
- 37
- Category
- Article
- ISSN
- 2210-7401
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Wilson disease (WND), an autosomal recessive disorder of copper transport, shows wide genotypic and phenotypic variability, with hepatic and/or neurological symptoms. The WND gene, ATP7B, encodes a copper transporting ATPase that is involved in the transport of copper into the plasma protein cerulop
## Abstract Atretic cephalocele is a clinicopathological entity, which is different from the common form of cephalocele. Its etiopathogenesis has not been completely explained and there are only two previous reports of familial recurrence. We report a Brazilian family with autosomal dominant inheri