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The phenotypic spectrum of the Cornelia de Lange‐like “Alazami‐Yuan syndrome”: A case report of the 7th diagnosed individual and review of the literature by Annie Pappas, Mary Mooney, Katherine Kohnen, Joshua W. Owens, Wenying Zhang, Robert J. Hopkin, Amelle Shillington
Published 2025-05-01Get full text
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RMND1 and PLN variants are the underlying cause of Perrault‐like syndrome and cardiac anomalies in a patient by Xiaoli Du, Cara L. Barnett, Kimberly M. Widmeyer, Xinjian Wang, Diana S. Brightman, Carolee W. Noonan, Kathryn N. Weaver, Robert J. Hopkin, Yaning Wu
Published 2024-11-01Get full text
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