From Array-CGH to Whole-Genome Sequencing: A 29-Year Diagnostic Journey Culminating in the Identification of a De Novo ABCC9 Variant Consistent with Cantú Syndrome.

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Title: From Array-CGH to Whole-Genome Sequencing: A 29-Year Diagnostic Journey Culminating in the Identification of a De Novo ABCC9 Variant Consistent with Cantú Syndrome.
Authors: Lee, Chung-Lin1,2,3,4,5 (AUTHOR), Chang, Ya-Hui1,2,3 (AUTHOR), Chuang, Chih-Kuang3,6,7 (AUTHOR), Chiu, Huei-Ching1,4 (AUTHOR), Tu, Yuan-Rong5,6 (AUTHOR), Lo, Yun-Ting3,6 (AUTHOR), Wu, Jun-Yi3,7 (AUTHOR), Lin, Hsiang-Yu1,3,4,5,6,8 (AUTHOR) lxc46199@ms37.hinet.net, Lin, Shuan-Pei1,3,4,6,9 (AUTHOR)
Source: Diagnostics (2075-4418). Jul2026, Vol. 16 Issue 14, p2204. 17p.
Database: Academic Search Ultimate
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ISSN:20754418
DOI:10.3390/diagnostics16142204