Laboratory of Medical Genetics - Department of Precision Medicine

Dac ID Contact Person Email Access Information
EGAC00001000936 Giulio Piluso giulio [dot] piluso [at] unicampania [dot] it No additional information is available

This DAC controls 1 dataset:

Dataset ID Description Technology Samples
EGAD00001004157 Five subjects from pedigree with co-occurrence of neurofibromatosis type 1 and moyamoya were sequenced in duplicate (0 and1). Kinship and phenotype: NF025, NF026 and NF027 were sibling all affected by neurofibromatosis type 1. NF026 also presented moyamoya. NF0262 and NF0263 were sibling both affected by neurofibromatosis type 1. NF0262 also presented moyamoya. NF026 and NF0262 were first cousins. Illumina HiSeq 1000 10