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A novel frame shift mutation in the PQBP1 gene identified in a Tunisian family with X-linked mental retardation

Article ID Journal Published Year Pages File Type
5905030 European Journal of Medical Genetics 2011 6 Pages PDF
Abstract
Together with previously reported observations, our data further confirm that PQBP1 gene should be tested for males showing mental retardation, short stature, lean body and microcephaly.
Keywords
PQBP1mutationX-linked mental retardationShort staturemicrocephaly
Related Topics
Life Sciences Biochemistry, Genetics and Molecular Biology Genetics
Preview
A novel frame shift mutation in the PQBP1 gene identified in a Tunisian family with X-linked mental retardation
Authors
Imen Rejeb, Lamia Ben Jemaa, Leila Abaied, Lilia Kraoua, Yoann Saillour, Faouzi Maazoul, Jamel Chelly, Habiba Chaabouni,
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Journal
European Journal of Medical Genetics
Journal: European Journal of Medical Genetics
Related Categories
PQBP1
mutation
X-linked mental retardation
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microcephaly
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