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Article

A contiguous deletion syndrome of X‐linked agammaglobulinemia and sensorineural deafness

1 Apr 2001

Abstract excerpt

Hearing loss in patients with X-linked agammaglobulinemia is often attributed to recurrent infections. However, recent genetic studies suggest a different etiology in some patients. We present three unrelated patients, 6, 9, and 14 years of age, with large deletions of the terminal portion of the Bruton tyrosine kinase (Btk) gene extending 4.2-19 kb beyond the 3' end of the gene. The DNA immediately downstream of...

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PMID: 11338284
DOI: 10.1034/j.1399-3038.2001.0129999107.x

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