Bi-allelic INTU variants define a ciliopathy disorder characterized by orofacial, digital, and cardiac anomalies.

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Bibliographic Details
Title: Bi-allelic INTU variants define a ciliopathy disorder characterized by orofacial, digital, and cardiac anomalies.
Authors: Rushforth R; Biomedical Sciences Graduate Program, The Ohio State University College of Medicine, Columbus, OH 43210, USA; Steve and Cindy Rasmussen Institute for Genomic Medicine, Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, OH 43205, USA., Reynolds K; Steve and Cindy Rasmussen Institute for Genomic Medicine, Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, OH 43205, USA., Estes SI; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH 43205, USA., Nolan DK; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH 43205, USA., Mori M; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH 43210, USA., Koboldt DC; Steve and Cindy Rasmussen Institute for Genomic Medicine, Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, OH 43205, USA; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH 43210, USA., Hunter JM; Steve and Cindy Rasmussen Institute for Genomic Medicine, Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, OH 43205, USA; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH 43210, USA., Stottmann RW; Steve and Cindy Rasmussen Institute for Genomic Medicine, Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, OH 43205, USA; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH 43210, USA. Electronic address: rolf.stottmann@nationwidechildrens.org.
Source: HGG advances [HGG Adv] 2026 Jan 15; Vol. 7 (1), pp. 100518. Date of Electronic Publication: 2025 Sep 18.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:2666-2477
DOI:10.1016/j.xhgg.2025.100518