Article
Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome.
Human genetics - 1 Sept 2014
Alders Mariëlle, Al-Gazali Lihadh, Cordeiro Isabelle, Dallapiccola Bruno, Garavelli Livia, Tuysuz Beyhan, Salehi Faranak, Haagmans Martin A, Mook Olaf R, Majoie Charles B, Mannens Marcel M, Hennekam Raoul C
Abstract excerpt
The Hennekam lymphangiectasia-lymphedema syndrome is a genetically heterogeneous disorder. It can be caused by mutations in CCBE1 which are found in approximately 25 % of cases. We used homozygosity mapping and whole-exome sequencing in the original HS family with multiple affected individuals in whom no CCBE1 mutation had been detected, and identified a homozygous mutation in the FAT4 gene. Subsequent targeted...
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