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Article

Klippel‐Trenaunay‐Weber syndrome associated with a 5:11 balanced translocation

4 Dec 1995

Abstract excerpt

We report on a case of Klippel-Trenaunay Weber syndrome (KTWS) associated with a reciprocal translocation [46,XX,t (5;11) (q13.3;p15.1)]. The patient has developmental delay and minor anomalies in addition to classic findings of KTWS. These data support the notion that Klippel-Trenaunay-Weber syndrome may be due to a single gene defect and suggests the possible localization of a Klippel-Trenaunay-Weber gene(s) to...

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PMID: 8585570
DOI: 10.1002/ajmg.1320590416

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