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3. MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans. Hughes CR; Guasti L; Meimaridou E; Chuang CH; Schimenti JC; King PJ; Costigan C; Clark AJ; Metherell LA J Clin Invest; 2012 Mar; 122(3):814-20. PubMed ID: 22354170 [TBL] [Abstract][Full Text] [Related]
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10. Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency. Cottineau J; Kottemann MC; Lach FP; Kang YH; Vély F; Deenick EK; Lazarov T; Gineau L; Wang Y; Farina A; Chansel M; Lorenzo L; Piperoglou C; Ma CS; Nitschke P; Belkadi A; Itan Y; Boisson B; Jabot-Hanin F; Picard C; Bustamante J; Eidenschenk C; Boucherit S; Aladjidi N; Lacombe D; Barat P; Qasim W; Hurst JA; Pollard AJ; Uhlig HH; Fieschi C; Michon J; Bermudez VP; Abel L; de Villartay JP; Geissmann F; Tangye SG; Hurwitz J; Vivier E; Casanova JL; Smogorzewska A; Jouanguy E J Clin Invest; 2017 May; 127(5):1991-2006. PubMed ID: 28414293 [TBL] [Abstract][Full Text] [Related]
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