Two novel CSNK2A1 variants associated with mild Okur-Chung neurodevelopmental syndrome phenotype.
Clinical dysmorphology(2023)
摘要
Wafik, Mohameda; Kuoppamaa, Heidib; Hirani, Priyalb; Hignett, Johnb; Lillis, Suzanneb; Lascelles, Karinec; Sardesai, Shwetad; Gomez, Kumudinie; Holder-Espinasse, Muriela Author Information
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关键词
novel csnk2a1 variants,syndrome,okur-chung
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