| HRA003924
(Controlled Access)
|
Craniofacial microsomia (CFM also known as Goldenhar syndrome), is a craniofacial developmental disorder of variable expressivity and severity with a recognizable set of abnormalities. These birth defects are associated with structures derived from the first and second branchial arches, can occur unilaterally and include ear dysplasia, microtia, preauricular tags and pits, facial asymmetry and other malformations. The inheritance pattern is controversial, and the molecular etiology of this syndrome is largely unknown. Here, we performed whole genome sequencing on the craniofacial microsomia patients to identify the potential causal genes. |
