Ataxia telangiectasia in a three-year-old-girl

Pediatr Neurol. 2014 Mar;50(3):279-80. doi: 10.1016/j.pediatrneurol.2013.11.011. Epub 2013 Nov 21.

Authors

Kathryn Anne Hosking¹, Harry Leung², Ian Andrews³, Rani Sachdev⁴

Affiliations

¹ Southern Ophthalmology, Kogarah, Sydney, Australia. Electronic address: kathrynhosking@suresight.com.au.
² Southern Ophthalmology, Kogarah, Sydney, Australia.
³ Neurology, Sydney Children's Hospital, Randwick, NSW, Australia.
⁴ Department of Medical Genetics, Sydney Children's Hospital, Randwick, NSW, Australia.

PMID: 24368146
DOI: 10.1016/j.pediatrneurol.2013.11.011

No abstract available

Publication types

Case Reports

MeSH terms

Ataxia Telangiectasia / diagnosis*
Ataxia Telangiectasia / genetics
Ataxia Telangiectasia / pathology*
Ataxia Telangiectasia Mutated Proteins / genetics
Child, Preschool
Diagnosis, Differential
Eye / pathology*
Female
Humans
Mutation

Substances

ATM protein, human
Ataxia Telangiectasia Mutated Proteins