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Pseudoxanthoma Elasticum

Inheritance patterns and prenatal diagnosis

Inheritance patterns
Autosomal recessive or, more rarely, autosomal dominant. Genetic counselling should be sought in families with an already affected member.

Prenatal diagnosis
This may be available for families in whom a PXE gene mutation has already been identified in an affected family member.

View How is it treated? How is it treated?  |  Is there support? View Is there support?

Medical text written December 2005 by Contact a Family. Approved December 2005 by Dr C Moss, Consultant Paediatric Dermatologist, Head of Dermatology Department, Birmingham Children's Hospital, Birmingham, UK and Mr S Kheterpal, Consultant Ophthalmic Surgeon, Prince Charles Eye Unit, King Edward VII Hospital, Windsor, UK.

 

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