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DNAJC12 Deficiency, an Emerging Condition Picked Up by Newborn Screening: A Case Illustration and a Novel Variant Identified

Tsz Sum Wong,Sheila Suet Na Wong, Anne Mei Kwun Kwok, Helen Wu, Hiu Fung Law, Shirley Lam,Matthew Chun Wing Yeung,Toby Chun Hei Chan, Gordon Leung,Chloe Miu Mak,Kiran Moti Belaramani,Cheuk Wing Fung

International journal of neonatal screening(2024)

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Key words
DNAJC12 deficiency,hyperphenylalaninemia,newborn screening,Hong Kong
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