Publications:

Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.

Human Mutation

Zhang, Wenjuan W; Taylor, S Paige SP; Ennis, Hayley A HA; Forlenza, Kimberly N KN; Duran, Ivan I; Li, Bing B; Sanchez, Jorge A Ortiz JAO; Nevarez, Lisette L; Nickerson, Deborah A DA; Bamshad, Michael M; , ; Lachman, Ralph S RS; Krakow, Deborah D; Cohn, Daniel H DH

Publication Date: 2018-01

Variant appearance in text: ATD: 1358C>G

PubMed Link: 29068549

Variant Present in the following documents:

• Main text

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