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The diagnosis of the first-documented intragenic KANSL1 microduplication patient broadens the genetic spectrum of Koolen de Vries syndrome.
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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
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DOI:
10.1111/cge.14124
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KANSL1
1