Article
A novel stable polyalanine [poly(A)] expansion in the HOXA13 gene associated with hand-foot-genital syndrome: proper function of poly(A)-harbouring transcription factors depends on a critical repeat length?
Human genetics - 1 May 2002
Utsch Boris, Becker Karl, Brock Detlef, Lentze Michael J, Bidlingmaier Frank, Ludwig Michael
Abstract excerpt
Hand-foot-genital syndrome (HFGS) is a dominantly inherited congenital malformation affecting the distal limbs and genitourinary tract. Here, we describe the phenotype and its molecular basis in a family that presented with HFGS. Genetic analysis revealed that the condition is caused by an 18-bp in-frame duplication within a cryptic trinucleotide repeat sequence encoding an 18-residue polyalanine tract in the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.