Impact of genetic variants on haematopoiesis in patients with thrombocytopenia absent radii (TAR) syndrome.

Manukjan, Georgi; Bösing, Hendrik; Schmugge, Markus; Strauß, Gabriele; Schulze, Harald

Manukjan, Georgi; Bösing, Hendrik; Schmugge, Markus; Strauß, Gabriele; Schulze, Harald.

Affiliation

Manukjan G; Institute of Experimental Biomedicine, Chair I, University Hospital Würzburg, Würzburg, Germany.
Bösing H; Institute of Experimental Biomedicine, Chair I, University Hospital Würzburg, Würzburg, Germany.
Schmugge M; Laboratory of Paediatric Molecular Biology, Charité - University Hospital Berlin, Berlin, Germany.
Strauß G; Kinderspital Zürich, Zürich, Switzerland.
Schulze H; Department of Paediatric Haematology and Oncology, Helios-Klinikum Buch, Berlin, Germany.

Br J Haematol ; 179(4): 606-617, 2017 11.

Article in En | MEDLINE | ID: mdl-28857120

Subject(s)

Genetic Variation; Hematopoiesis/genetics; Thrombocytopenia/genetics; Upper Extremity Deformities, Congenital/genetics; 5' Untranslated Regions/genetics; Adolescent; Adult; Child; Child, Preschool; Chromosome Deletion; Chromosomes, Human, Pair 1/genetics; Cohort Studies; Congenital Bone Marrow Failure Syndromes; Female; Humans; Infant; Infant, Newborn; Introns/genetics; Male; Platelet Count; Polymorphism, Single Nucleotide/genetics; RNA-Binding Proteins/genetics; Radius/pathology; Thrombocytopenia/diagnosis; Thrombocytopenia/pathology; Upper Extremity Deformities, Congenital/diagnosis; Upper Extremity Deformities, Congenital/pathology; Young Adult

Key words

bone marrow failure; genetics; haematopoiesis; thrombocytopenia; thrombocytopenia-absent radii syndrome

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Thrombocytopenia / Genetic Variation / Upper Extremity Deformities, Congenital / Hematopoiesis Type of study: Clinical_trials / Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Language: En Journal: Br J Haematol Year: 2017 Document type: Article Affiliation country: Germany Country of publication: United kingdom

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