Variant ataxia telangiectasia identified during evaluation for short stature.

Abstract excerpt

Ataxia telangiectasia (A-T) (OMIM 208900) is an autosomal recessive multisystem disorder characterised by progressive cerebellar ataxia, telangiectasias, immunodeficiency and a predisposition to malignancy. 'Variant' A-T has later onset of neurological symptoms and slower progression compared with the 'classic' form. A woman presented with short stature in late childhood. Karyotype revealed rearrangements...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Adolescent
• Share to Ataxia Telangiectasia
• Share to Ataxia Telangiectasia Mutated Proteins