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Items: 2


Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia.

Clericuzio C, Harutyunyan K, Jin W, Erickson RP, Irvine AD, McLean WH, Wen Y, Bagatell R, Griffin TA, Shwayder TA, Plon SE, Wang LL.

Am J Med Genet A. 2011 Feb;155A(2):337-42. doi: 10.1002/ajmg.a.33807. Epub 2010 Dec 22.


Poikiloderma with neutropenia: a case report and review of the literature.

Farruggia P, Indaco S, Dufour C, Lanza T, Mosa C, Macaluso A, Milioto M, D'Angelo P, Lanciotti M.

J Pediatr Hematol Oncol. 2014 May;36(4):297-300. doi: 10.1097/MPH.0b013e31829f35e7. Review.


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