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Article

Molecular Diagnosis of Craniosynostosis Using Targeted Next-Generation Sequencing.

Neurosurgery - 1 Aug 2020

Yoon Jihoon G, Hahn Hyung Min, Choi Sungkyoung, Kim Soo Jung, Aum Sowon, Yu Jung Woo, Park Eun Kyung, Shim Kyu Won, Lee Min Goo, Kim Yong Oock

Abstract excerpt

BACKGROUND: Genetic factors play an important role in the pathogenesis of craniosynostosis (CRS). However, the molecular diagnosis of CRS in clinical practice is limited because of its heterogeneous etiology. OBJECTIVE: To investigate the genomic landscape of CRS in a Korean cohort and also to establish a practical diagnostic workflow by applying targeted panel sequencing. METHODS: We designed a customized panel...

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PMID: 31754721
DOI: 10.1093/neuros/nyz470

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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