Project description:Oculo-facio-cardio-dental syndrome (OFCD) is a rare genetic disorder characterized by teeth with extremely long roots (radiculomegaly), and craniofacial, eye and cardiac abnormalities. The mutation of the transcriptional co-repressor BCOR has been identified as being responsible for oculo-facio-cardio-dental (OFCD) syndrome. Mesenchymal stem cells (MSCs) is isolated from the root apical papilla of an OFCD patient. Gene expression profiling is performed and compared between mutant MSCs and wild type MSCs. Total RNA were extracted from normal MSCs (MSCWT) and mutant MSCs (MSCO).

2009-07-23 | E-GEOD-15214 | biostudies-arrayexpress

First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure.

Project description: Not available

| S-EPMC1821117 | biostudies-literature

[Oculo-facio-cardio-dental syndrome caused by <i>BCOR</i> gene mutations: a case report].

Project description: Not available

| S-EPMC9979390 | biostudies-literature

BCOR-regulated genes in human oculo-facio-cardio-dental syndrome

2009-07-23 | GSE15214 | GEO

Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes.

Project description: Not available

| S-EPMC2891728 | biostudies-literature