👤 Jordi Muchart

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Articles

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The diagnosis of the first-documented intragenic KANSL1 microduplication patient broadens the genetic spectrum of Koolen de Vries syndrome.

Loreto Martorell, Delia Yubero, Esther Cuatrecasas Capdevila +7 more · 2022 · Clinical genetics · Blackwell Publishing · added 2026-04-24

Loreto Martorell, Delia Yubero, Esther Cuatrecasas Capdevila, Guerau Fernández Isern, Diana Salinas, Rosanna Mari Vico, Mónica Rebollo, Jordi Muchart, Judith Armstrong, Juan Darío Ortigoza-Escobar Show less

no PDF DOI: 10.1111/cge.14124

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