YUHSpace: Multi-locus pathogenic variation identified in a patient with craniosynostosis

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Multi-locus pathogenic variation identified in a patient with craniosynostosis

Authors: Jihoon G Yoon ; Jung Woo Yu ; Kyu Won Shim ; Yong Oock Kim ; Min Goo Lee

Citation: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, Vol.194(5) : e63521, 2024-05

Journal Title: AMERICAN JOURNAL OF MEDICAL GENETICS PART A

ISSN: 1552-4825

Issue Date: 2024-05

MeSH: Craniosynostoses* / diagnosis ; Craniosynostoses* / genetics ; Humans ; Mutation

Full Text: https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.63521

DOI: 10.1002/ajmg.a.63521

Appears in Collections:: 1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Neurosurgery (신경외과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pharmacology (약리학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Plastic and Reconstructive Surgery (성형외과학교실) > 1. Journal Papers

Yonsei Authors: Kim, Yong Oock(김용욱) https://orcid.org/0000-0002-3756-4809
Shim, Kyu Won(심규원) https://orcid.org/0000-0002-9441-7354
Yu, Jung Woo(유정우)
Yoon, Jihoon G.(윤지훈) https://orcid.org/0000-0002-4401-7803
Lee, Min Goo(이민구) https://orcid.org/0000-0001-7436-012X

URI: https://ir.ymlib.yonsei.ac.kr/handle/22282913/199693

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