A new ataxia-telangiectasia mutation in an 11-year-old female

HIGHLIGHTS

• who: Esmaeil Mortaz from the Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical, Tehran, Iran have published the research work: A new ataxia-telangiectasia mutation in an 11-year-old female, in the Journal: (JOURNAL)
• what: The authors report here novel ATM (c.3244_3245insG; p.His1082fs) in an 11-year old This subject presented with typical features with the addition of chest manifestations including mediastinal lymphadenopathy and diffuse bilateral micronodular infiltration of the lungs along with high EBV titer.

SUMMARY

Ataxia-telangiectasia (A-T), a rare . . .

 



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