CAMT in a female with developmental delay, facial malformations and central nervous system anomalies
Author:
Publisher
Wiley
Subject
Oncology,Hematology,Pediatrics, Perinatology, and Child Health
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/pbc.22904/fullpdf
Reference16 articles.
1. C-mpl mutations are de cause of congenital amegakaryocytic thrombocytopenia;Ballmaier;Blood,2001
2. Mutations in the thrombopoietin receptor, mpl, in children with congenital amegakaryocytic thrombocytopenia;van den Oudenrijn;Br J Haematol,2000
3. Congential amegakaryocytic thrombocytopenia (CAMT)-a defect of the thrombopoietin receptor c-mpl;Germeshausen;Klin Padiatr,2001
4. Congenital hypoplastic thrombocytopenia and cerebral malformations in two brothers;Hoyeraal;Acta Paediatr Scand,1970
5. Identification of mutations in the c-mpl gene in congenital amegakaryocytic trombocitopenia;Ihara;Proc Natl Acad Sci USA,1999
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1. Genomic and computational analysis of four novel variants of MPL gene in Congenital Amegakaryocytic Thrombocytopenia;Annals of Hematology;2023-07-13
2. Congenital Amegakaryocytic Thrombocytopenia Type II Presenting with Multiple Central Nervous System Anomalies;Neuropediatrics;2016-02-08
3. Congenital amegakaryocytic thrombocytopenia;Blood Coagulation & Fibrinolysis;2015-04
4. Different mutations of the human c-mpl gene indicate distinct haematopoietic diseases;Journal of Hematology & Oncology;2013-01-25
5. Congenital Amegakaryocytic Thrombocytopenia: Clinical Presentation, Diagnosis, and Treatment;Seminars in Thrombosis and Hemostasis;2011-09
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