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Sasaki Y, Murakami H, Kuroda Y, Enomoto Y, Naruto T, Nagara S, Koyama T, Matsunami K, Sakashita T, Kaneko H, Morimoto K, Imamura A, Kurosawa K. Severe pharyngeal stenosis and laryngomalacia in an individual of HNRNPU-related neurodevelopmental disorder associated with a novel nonsense variant. Congenital anomalies. 2025 Jan-Dec;65(1):e70006


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