Literature DB >> 1481838

RAPADILINO syndrome.

F R Vargas1, J C de Almeida, J C Llerena Júnior, D F Reis.   

Abstract

We report on a boy with severe radial hypoplasia, absent thumbs and patellae, short stature, persistent diarrhea, slender nose and normal intelligence as another example of the RAPADILINO syndrome.

Entities:  

Mesh：

Year:  1992        PMID： 1481838     DOI： 10.1002/ajmg.1320440604

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  5 in total

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4.  The mutation spectrum in RECQL4 diseases.

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5.  The Genetic and Physical Interactomes of the Saccharomyces cerevisiae Hrq1 Helicase.

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  5 in total

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