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Congenital amegakaryocytic thrombocytopenia.
Geddis AE. Geddis AE. Pediatr Blood Cancer. 2011 Aug;57(2):199-203. doi: 10.1002/pbc.22927. Epub 2011 Feb 18. Pediatr Blood Cancer. 2011. PMID: 21337678 Review.
Congenital amegakaryocytic thrombocytopenia (CAMT) is clinically characterized by thrombocytopenia presenting at birth in a child without congenital or skeletal malformations, reduced or absent bone marrow megakaryocytes, and eventual progression to bone marrow fail …
Congenital amegakaryocytic thrombocytopenia (CAMT) is clinically characterized by thrombocytopenia presenting at birth in a ch …
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L, Collins J, Sims MC, Barrio-Hernandez I, Sun L, Burren OS, Perfetto L, Bender I, Callahan TJ, Fleming K, Guerrero JA, Hermjakob H, Martin MJ, Stephenson J, Paneerselvam K, Petrovski S, Porras P, Robinson PN, Wang Q, Watkins X, Frontini M, Laskowski RA, Beltrao P, Di Angelantonio E, Gomez K, Laffan M, Ouwehand WH, Mumford AD, Freson K, Carss K, Downes K, Gleadall N, Megy K, Bruford E, Vuckovic D. Stefanucci L, et al. Blood. 2023 Dec 14;142(24):2055-2068. doi: 10.1182/blood.2023020118. Blood. 2023. PMID: 37647632 Free PMC article.
Variants causal of some autosomal recessive platelet disorders revealed phenotypic consequences in carriers. Loss-of-function variants in MPL, which cause chronic amegakaryocytic thrombocytopenia if biallelic, were unexpectedly associated with increased platelet cou …
Variants causal of some autosomal recessive platelet disorders revealed phenotypic consequences in carriers. Loss-of-function variants in MP …
Congenital amegakaryocytic thrombocytopenia - Not a single disease.
Germeshausen M, Ballmaier M. Germeshausen M, et al. Best Pract Res Clin Haematol. 2021 Jun;34(2):101286. doi: 10.1016/j.beha.2021.101286. Epub 2021 Jul 14. Best Pract Res Clin Haematol. 2021. PMID: 34404532 Review.
Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited bone marrow failure syndrome (IBMFS) that is characterized by severe thrombocytopenia at birth due to ineffective megakaryopoiesis and development towards aplastic anemia during the first years o …
Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited bone marrow failure syndrome (IBMFS) that is characteri …
Congenital amegakaryocytic thrombocytopenia: clinical presentation, diagnosis, and treatment.
Ballmaier M, Germeshausen M. Ballmaier M, et al. Semin Thromb Hemost. 2011 Sep;37(6):673-81. doi: 10.1055/s-0031-1291377. Epub 2011 Nov 18. Semin Thromb Hemost. 2011. PMID: 22102270 Review.
Congenital amegakaryocytic thrombocytopenia (CAMT, MIM #604498) is a rare inherited bone marrow failure syndrome presenting as isolated hypomegakaryocytic thrombocytopenia at birth without other characteristic physical anomalies. ...
Congenital amegakaryocytic thrombocytopenia (CAMT, MIM #604498) is a rare inherited bone marrow failure syndrome presenting as …
Congenital amegakaryocytic thrombocytopenia and thrombocytopenia with absent radii.
Geddis AE. Geddis AE. Hematol Oncol Clin North Am. 2009 Apr;23(2):321-31. doi: 10.1016/j.hoc.2009.01.012. Hematol Oncol Clin North Am. 2009. PMID: 19327586 Free PMC article. Review.
Two well-described inherited thrombocytopenia syndromes that present in the newborn period are congenital amegakaryocytic thrombocytopenia (CAMT) and thrombocytopenia with absent radii (TAR). ...
Two well-described inherited thrombocytopenia syndromes that present in the newborn period are congenital amegakaryocytic thromboc
Inherited thrombocytopenia: Congenital amegakaryocytic thrombocytopenia and thrombocytopenia with absent radii.
Geddis AE. Geddis AE. Semin Hematol. 2006 Jul;43(3):196-203. doi: 10.1053/j.seminhematol.2006.04.003. Semin Hematol. 2006. PMID: 16822462 Review.
Thrombocytopenia in the newborn period can signify an inherited platelet disorder. Congenital amegakaryocytic thrombocytopenia (CAMT) and thrombocytopenia with absent radii (TAR) share features of isolated thrombocytopenia, reduced or absent marrow megakaryocytes, i …
Thrombocytopenia in the newborn period can signify an inherited platelet disorder. Congenital amegakaryocytic thrombocytopenia
Acquired and germline predisposition to bone marrow failure: Diagnostic features and clinical implications.
Kallen ME, Dulau-Florea A, Wang W, Calvo KR. Kallen ME, et al. Semin Hematol. 2019 Jan;56(1):69-82. doi: 10.1053/j.seminhematol.2018.05.016. Epub 2018 Jun 23. Semin Hematol. 2019. PMID: 30573048 Review.
Herein we review several overlapping acquired marrow failure entities including aplastic anemia, hypoplastic myelodysplasia, and large granular lymphocyte disorders; and several bone marrow disorders with germline predisposition, including GATA2 deficiency, CTLA4 haploinsufficien …
Herein we review several overlapping acquired marrow failure entities including aplastic anemia, hypoplastic myelodysplasia, and large granu …
Amegakaryocytic Thrombocytopenia and Subsequent Aplastic Anemia Associated with Apparent Epstein-Barr Virus Infection.
Levy I, Laor R, Jiries N, Bejar J, Polliack A, Tadmor T. Levy I, et al. Acta Haematol. 2018;139(1):7-11. doi: 10.1159/000484595. Epub 2018 Jan 5. Acta Haematol. 2018. PMID: 29301129 Review.
Acquired amegakaryocytic thrombocytopenia (AAT), a rare entity characterized by severe thrombocytopenia and the absence of megakaryocytes in the bone marrow, may mimic or precede the diagnosis of aplastic anemia (AA). ...
Acquired amegakaryocytic thrombocytopenia (AAT), a rare entity characterized by severe thrombocytopenia and the absence of meg …
64 results