Ontology highlight
ABSTRACT:
SUBMITTER: Baxter AL
PROVIDER: S-EPMC5498959 | biostudies-literature | 2017 Jun
REPOSITORIES: biostudies-literature
Baxter Adrianne L AL Vivian Jay L JL Hagelstrom R Tanner RT Hossain Waheeda W Golden Wendy L WL Wassman E Robert ER Vanzo Rena J RJ Butler Merlin G MG
Molecular syndromology 20170503 4
Mowat-Wilson syndrome is a rare genetic condition characterized by intellectual disability, structural anomalies, and dysmorphic features. It is caused by haploinsufficiency of the <i>ZEB2</i> gene in chromosome 2q22.3. Over 180 distinct mutations in <i>ZEB2</i> have been reported, including nonsense and missense point mutations, deletions, and large chromosomal rearrangements. We report on a 14-year-old female with a clinical diagnosis of Mowat-Wilson syndrome. Chromosomal microarray identified ...[more]