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 was done at theCenter for Inherited Disease Research. Several candidate regionshave been identified and flanking markers are being typed tocorroborate initial linkage findings. - Cranio-lenticulo-sutural dysplasia, congenital cataract, model-independent linkage analysis, genomic screening, - Human Subjects
| 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 |
