A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD).
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Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)Newly recognized Mendelian disorders with rheumatic manifestationsMutation analysis of Chinese sporadic congenital sideroblastic anemia by targeted capture sequencing.New monogenic autoinflammatory diseases--a clinical overviewMolecular mechanisms in genetically defined autoinflammatory diseases: disorders of amplified danger signaling.Toward an Inclusive, Congruent, and Precise Definition of Autoinflammatory DiseasesHypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis.TRNT1 deficiency: clinical, biochemical and molecular genetic featuresMonogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.Update on genetics and pathogenesis of autoinflammatory diseases: the last 2 years.Neutrophilic dermatoses and autoinflammatory diseases with skin involvement--innate immune disorders.Genetically defined autoinflammatory diseases.Geoepidemiology and Immunologic Features of Autoinflammatory Diseases: a Comprehensive Review.A systematic approach to autoinflammatory syndromes: a spelling booklet for the beginner.Transplantation in inborn errors of metabolism: current considerations and future perspectives.A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia.Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors.SIFD as a novel cause of severe fetal hydrops and neonatal anaemia with iron loading and marked extramedullary haemopoiesis.The classification, genetic diagnosis and modelling of monogenic autoinflammatory disorders
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P2860
A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD).
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 03 April 2013
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
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name
A novel syndrome of congenital ...... nd developmental delay (SIFD).
@en
A novel syndrome of congenital ...... nd developmental delay (SIFD).
@nl
type
label
A novel syndrome of congenital ...... nd developmental delay (SIFD).
@en
A novel syndrome of congenital ...... nd developmental delay (SIFD).
@nl
prefLabel
A novel syndrome of congenital ...... nd developmental delay (SIFD).
@en
A novel syndrome of congenital ...... nd developmental delay (SIFD).
@nl
P2093
P2860
P1433
P1476
A novel syndrome of congenital ...... nd developmental delay (SIFD).
@en
P2093
Alexis A Thompson
Alison May
Caroline Kannengiesser
Colin Powell
Daniel H Wiseman
Denise K Bonney
Isabelle Thuret
Laura Marques
Mark D Fleming
Matthew M Heeney
P2860
P304
P356
10.1182/BLOOD-2012-08-439083
P407
P577
2013-04-03T00:00:00Z