关键词: Ciliary chondrodysplasias Exome sequencing
Mesh : Adult Bone and Bones / abnormalities Cells, Cultured Child Ciliopathies / diagnosis genetics Craniosynostoses / diagnosis genetics Cytoskeletal Proteins Diagnosis, Differential Ectodermal Dysplasia / diagnosis genetics Ellis-Van Creveld Syndrome / diagnosis genetics Female Hedgehog Proteins Humans Intracellular Signaling Peptides and Proteins Male Mutation, Missense Pedigree Protein Binding Protein Transport Proteins / genetics metabolism Whole Exome Sequencing
来 源:
DOI:10.1016/j.ejmg.2017.08.019
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