Ontology highlight
ABSTRACT:
SUBMITTER: Micale L
PROVIDER: S-EPMC2680067 | biostudies-literature | 2008 Sep
REPOSITORIES: biostudies-literature
Micale Lucia L Fusco Carmela C Augello Bartolomeo B Napolitano Luisa M R LM Dermitzakis Emmanouil T ET Meroni Germana G Merla Giuseppe G Reymond Alexandre A
European journal of human genetics : EJHG 20080409 9
Williams-Beuren syndrome (WBS) is a neurodevelopmental and multisystemic disease that results from hemizygosity of approximately 25 genes mapping to chromosomal region 7q11.23. We report here the preliminary description of eight novel genes mapping within the WBS critical region and/or its syntenic mouse region. Three of these genes, TRIM50, TRIM73 and TRIM74, belong to the TRIpartite motif gene family, members of which were shown to be associated to several human genetic diseases. We describe t ...[more]