Congenital amegakaryocytic thrombocytopenia presenting with a new thrombopoietin receptor (MPL) pathogenic variant: An instructive neonatal case

J Paediatr Child Health. 2022 Dec;58(12):2319-2321. doi: 10.1111/jpc.16168. Epub 2022 Aug 16.

Inez M Vanholder^{1

2}, Ginette M Ecury-Goossen¹, Jop Admiraal^{1

3}, Leendert Porcelijn⁴, Rosalina Ml van Spaendonk⁵, Samantha C Gouw^{6

7}

¹ Department of Neonatology and Paediatrics, Curaçao Medical Center, J.H.J. Hamelweg, Willemstad, Curaçao.
² Department of Paediatrics, University of Antwerp, Edegem, Belgium.
³ Department of Paediatrics, University of Amsterdam, Amsterdam, The Netherlands.
⁴ Immunohematology Diagnostic Services, Sanquin Diagnostic Services, Amsterdam, The Netherlands.
⁵ Department of Clinical Genetics, Amsterdam University Medical Centers, Amsterdam, The Netherlands.
⁶ Department of Pediatric Hematology, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
⁷ Department of Clinical Epidemiology, Leiden University Medical Center, Leiden, The Netherlands.

No abstract available

Publication types