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Article

Next Generation Phenotyping and Synthetic Faces in Coffin Siris Syndrome.

Clinical genetics - 1 May 2025

Hennocq Quentin, Lienhard Olivier, Rao Dipesh, Amiel Jeanne, Benichou Ludovic, Bongibault Thomas, Hidalgo Ana-Julia Bravo, Cormier-Daire Valérie, Lyonnet Stanislas, Picard Arnaud, Rio Marlène, Zaiter Ahmed, Garcelon Nicolas, Tkemaladze Tinatin, Khonsari Roman H

Abstract excerpt

Diagnostic wandering and delayed management are major issues in rare diseases. Here, we report a new Next-Generation Phenotyping (NGP) model for diagnosing Coffin Siris syndrome (CSS) on clinical photographs among controls and distinguish the different genotypes. This retrospective and prospective study, conducted from 1998 to 2023, included frontal and lateral pictures of confirmed CSS. After automatic placement...

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PMID: 39726094
DOI: 10.1111/cge.14682

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