Combined skeletal dysplasia and vasculopathy phenotypes associated with in-frame intragenic deletion in PRKACA.

Saved in:
Bibliographic Details
Title: Combined skeletal dysplasia and vasculopathy phenotypes associated with in-frame intragenic deletion in PRKACA.
Authors: Weaver KN; The Heart Institute, Division of Cardiology Cincinnati Children's Hospital, Cincinnati, Ohio, USA; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA; Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, OH 45229, USA. Electronic address: kathryn.weaver@cchmc.org., Broeckel JW; Department of Biochemistry, University of Kassel, Kassel, Germany., Brown K; Division of Developmental Biology, Cincinnati Children's Hospital, Cincinnati, OH, USA., Wasserman H; Division of Endocrinology, Cincinnati Children's Hospital, Cincinnati, OH, USA., Wu J; Department of Pharmacology, University of California, San Diego, La Jolla, CA 92093, USA., Neal A; The Heart Institute, Division of Cardiology Cincinnati Children's Hospital, Cincinnati, Ohio, USA; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Prada CE; Edwards Family Division of Genetics and Rare Diseases, Lurie Children's Hospital and Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA., Kleinschmidt NL; Department of Biochemistry, University of Kassel, Kassel, Germany; Technical University Dresden, Center for Molecular and Cellular Bioengineering (CMCB), Dresden, Germany., Machal EMF; Department of Biochemistry, University of Kassel, Kassel, Germany., Bertinetti D; Department of Biochemistry, University of Kassel, Kassel, Germany., Ruiz-Perez VL; Instituto de Investigaciones Biomédicas Sols-Morreale, Consejo Superior de Investigaciones Científicas (CSIC)-Universidad Autónoma de Madrid, Madrid, Spain; CIBER de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain., Taylor SS; Department of Pharmacology, University of California, San Diego, La Jolla, CA 92093, USA; Department of Biochemistry and Molecular Biophysics, University of California, San Diego, La Jolla, CA 92093, USA., Brugmann SA; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA; Division of Developmental Biology, Cincinnati Children's Hospital, Cincinnati, OH, USA., Herberg FW; Department of Biochemistry, University of Kassel, Kassel, Germany. Electronic address: herberg@uni-kassel.de.
Source: HGG advances [HGG Adv] 2026 May 18; Vol. 7 (3), pp. 100626. Date of Electronic Publication: 2026 May 18.
Publication Type: Journal Article
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.2026.100626