Donor-type bone marrow aplasia following hematopoietic stem cell transplantation in a child with a novel SAMD9L variant

Pathogenic variants in the genes SAMD9 (sterile a-motif domain containing protein – 9) and SAMD9L (SAMD9-like) cause bone marrow failure with characteristic syndromic features. We report a case of a previously healthy, 3-year-old boy with no dysmorphology, who presented with severe aplastic anemia a...

ver descrição completa

Detalhes bibliográficos

Principais autores:	Manujasri Wimalachandra, Ruwangi Dissanayake, Revathi Raj, Austin Kulasekeraraj, Sujith Samarasinghe, Lallindra Gooneratne
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Taylor & Francis Group 2024-12-01
coleção:	Hematology
Assuntos:	SAMD9 SAMD9L aplastic anemia donor-type aplasia bone marrow failure syndromes
Acesso em linha:	https://www.tandfonline.com/doi/10.1080/16078454.2024.2337160
Tags:	Adicionar Tag Sem tags, seja o primeiro a adicionar uma tag!