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Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD).
Chakraborty PK, Schmitz-Abe K, Kennedy EK, Mamady H, Naas T, Durie D, Campagna DR, Lau A, Sendamarai AK, Wiseman DH, May A, Jolles S, Connor P, Powell C, Heeney MM, Giardina PJ, Klaassen RJ, Kannengiesser C, Thuret I, Thompson AA, Marques L, Hughes S, Bonney DK, Bottomley SS, Wynn RF, Laxer RM, Minniti CP, Moppett J, Bordon V, Geraghty M, Joyce PB, Markianos K, Rudner AD, Holcik M, Fleming MD. Chakraborty PK, et al. Among authors: durie d. Blood. 2014 Oct 30;124(18):2867-71. doi: 10.1182/blood-2014-08-591370. Epub 2014 Sep 5. Blood. 2014. PMID: 25193871 Free PMC article.
Circulating Angiogenic Factor Levels in Hypertensive Disorders of Pregnancy.
Thadhani R, Lemoine E, Rana S, Costantine MM, Calsavara VF, Boggess K, Wylie BJ, Moore Simas TA, Louis JM, Espinoza J, Gaw SL, Murtha A, Wiegand S, Gollin Y, Singh D, Silver RM, Durie DE, Panda B, Norwitz ER, Burd I, Plunkett B, Scott RK, Gaden A, Bautista M, Chang Y, Diniz MA, Karumanchi SA, Kilpatrick S. Thadhani R, et al. Among authors: durie de. NEJM Evid. 2022 Dec;1(12):EVIDoa2200161. doi: 10.1056/EVIDoa2200161. Epub 2022 Nov 9. NEJM Evid. 2022. PMID: 38319832
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