Congenital amegakaryocytic thrombocytopenia presenting with a new thrombopoietin receptor (MPL) pathogenic variant: An instructive neonatal case-Reference-Cited by-同舟云学术

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

Published:2022-08-16 Issue:12 Volume:58 Page:2319-2321
ISSN:1034-4810
Container-title:Journal of Paediatrics and Child Health
language:en
Short-container-title:J Paediatrics Child Health

Author:

Vanholder Inez M¹²^ORCID,Ecury‐Goossen Ginette M¹,Admiraal Jop¹³,Porcelijn Leendert⁴,van Spaendonk Rosalina ML⁵,Gouw Samantha C⁶⁷

Affiliation:

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

Publisher

Wiley

Subject

Pediatrics, Perinatology and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/jpc.16168

Reference7 articles.

1. Plasma thrombopoietin levels as additional tool in clinical management of thrombocytopenic neonates

2. CAMT-MPL: congenital amegakaryocytic thrombocytopenia caused by MPL mutations - heterogeneity of a monogenic disorder - a comprehensive analysis of 56 patients

3. Congenital Amegakaryocytic Thrombocytopenia Type II Presenting with Multiple Central Nervous System Anomalies

4. Congenital amegakaryocytic thrombocytopenia with severe neurological findings

5. MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease

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