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MCM4

HGNC:6947 8q12-q13 MIM.602638

Saturday 25 February 2012

minichromosome maintenance complex component 4; CDC21, "MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"; CDC54, hCdc21, MGC33310, P1-Cdc21

Pathology

- MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans. (22354170)

- Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency. (22354167)

References

- 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 Feb 22. pii: 60224. PMID: 22354170

- Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency. Gineau L, Cognet C, Kara N, Lach FP, Dunne J, Veturi U, Picard C, Trouillet C, Eidenschenk C, Aoufouchi S, Alca├»s A, Smith O, Geissmann F, Feighery C, Abel L, Smogorzewska A, Stillman B, Vivier E, Casanova JL, Jouanguy E. J Clin Invest. 2012 Feb 22. pii: 61014. PMID: 22354167 (Free)