Multi-locus pathogenic variation identified in a patient with craniosynostosis.

Autor: Yoon JG; Department of Genomic Medicine, Seoul National University Hospital, Seoul, Republic of Korea.; Department of Pharmacology, Yonsei University College of Medicine, Seoul, Republic of Korea., Yu JW; Department of Pharmacology, Yonsei University College of Medicine, Seoul, Republic of Korea., Shim KW; Department of Pediatric Neurosurgery, Craniofacial Reforming and Reconstruction Clinic, Yonsei University College of Medicine, Seoul, Republic of Korea., Kim YO; Department of Plastic and Reconstructive Surgery, Institute for Human Tissue Restoration, Yonsei University College of Medicine, Seoul, Republic of Korea., Lee MG; Department of Pharmacology, Yonsei University College of Medicine, Seoul, Republic of Korea.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2024 May; Vol. 194 (5), pp. e63521. Date of Electronic Publication: 2023 Dec 21.
DOI: 10.1002/ajmg.a.63521
Databáze: MEDLINE