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Deprecated: Implicit conversion from float 267.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Blood 2014 ; 124 (18): 2867-71 Nephropedia Template TP
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Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD) #MMPMID25193871
Blood 2014[Oct]; 124 (18): 2867-71 PMID25193871show ga
SIFD is a syndromic form of congenital sideroblastic anemia associated with immunodeficiency, periodic fevers, and developmental delay.SIFD is due to partial loss-of-function mutations in the CCA-adding enzyme TRNT1.