An application for access for genotyping at the NIH/JHU Center for Inherited Disease Research was prepared by Dr. Jabs and Wilson in order to obtain a genotypic screen on members of a family with a rare, presumably autosomal recessive, syndrome with congenital cataracts and craniofacial anomalies. Genotyping access was approved and genotyping is currently underway at the Center for Inherited Disease Research.
| Boyadjiev, Simeon A; Justice, Cristina M; Eyaid, Wafaa et al. (2003) A novel dysmorphic syndrome with open calvarial sutures and sutural cataracts maps to chromosome 14q13-q21. Hum Genet 113:1-9 |
