Article
Subtelomeric microduplications in three sisters with moderate mental retardation.
Biochemical genetics - 1 Dec 2010
Hila Lamia, Tébourbi Hedia, Abeid Leila, Rejeb Imen, Chaabouni Habiba
Abstract excerpt
Copy number changes of subtelomeric regions are a common cause of mental retardation, occurring in approximately 5% of mentally retarded patients. New molecular techniques allow the identification of subtelomeric microduplications. We report a Tunisian family of three sisters with moderate mental retardation, facial dysmorphism, cardiopathy, and bilateral clinodactyly of the third and fourth toes, explored by...
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