Systematic Analysis of Coding and Non-coding Elements in Developmental Pathways Implicated in Holoprosencephaly Pathogenesis

We applied targeted capture to examine 153 genes representative of all the major vertebrate developmental pathways among 340 probands and 285 of their unaffected parents to rank their relative significance as causes for holoprosencephaly (HPE).

• Type: Parent-Offspring Trios
• Archiver: The database of Genotypes and Phenotypes (dbGaP)