Literature DB >> 7368907

Deficient cell immunity and mild intermittent hyperaminoacidemia in a patient with the Rubinstein-Taybi Syndrome.

F Rivas, R Fragoso, R Ramos-Zepeda, G Vaca, A Hernandez, G Gonzalez-Quiroga, N Olivares, J M Cantu.   

Abstract

A boy aged 2 years 8 months presenting the Rubinstein-Taybi Syndrome (RTS) and a history of recurrent gastrointestinal and respiratory infections was studied. Partial deficient cell immunity and intermittent hyperaminoacidemia and aminoaciduria were ascertained. These findings were interpreted as evidence of phenotypic and probably genetic heterogeneity of RTS.

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Year:  1980        PMID: 7368907     DOI: 10.1111/j.1651-2227.1980.tb07044.x

Source DB:  PubMed          Journal:  Acta Paediatr Scand        ISSN: 0001-656X


  1 in total

1.  Rubinstein-Taybi syndrome with humoral and cellular defects: a case report.

Authors:  A Villella; D Bialostocky; E Lori; H Meyerson; R W Hostoffer
Journal:  Arch Dis Child       Date:  2000-10       Impact factor: 3.791

  1 in total

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