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    Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay (CLIFAHDD) Associated with a De Novo Missense Variant in NALCN: The First Korean Case Report

    Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay (CLIFAHDD) Associated with a De Novo Missense Variant in NALCN: The First Korean Case Report by Yoon Hee Jo, Yoo Jung Lee, Juhyun Kong, Yun-Jin Lee, Sang Ook Nam, Young Mi Kim

    Published 2025-01-01
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