Holle, Jennifer R

Hemophagocytic lymphohistiocytosis in a female patient due to a heterozygous XIAP mutation and skewed X chromosome inactivation. [electronic resource] - Pediatric blood & cancer Jul 2015 - 1288-90 p. digital

Publication Type: Case Reports; Journal Article

1545-5017

10.1002/pbc.25483 doi


Codon, Nonsense--genetics
Female
Flow Cytometry
Genes, X-Linked--genetics
Heterozygote
Humans
Infant
Lymphohistiocytosis, Hemophagocytic--genetics
Male
Prognosis
X Chromosome Inactivation--genetics
X-Linked Inhibitor of Apoptosis Protein--genetics