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Familial Pelger–Huet Anomaly [PDF]
Indian Journal of Hematology and Blood Transfusion, 2016 Pelger-Huet anomaly is usually autosomal dominant, although it is likely that new mutations are common. This condition is characterized by granulocytes that are either bilobed or completely unsegmented. Here is a report of a 46 year old Indian lady who presented with fever to the hospital and on evaluation, her peripheral blood smear showed extreme ...
Shah SS +3 more
exaly +5 more sources
Blended Phenotype of Pelger-Huet Anomaly With Osteochondroma and Autosomal Recessive Deafness With Enlarged Vestibular Aqueduct [PDF]
Molecular Syndromology, 2022 Tayfun Cinleti, Özlem Giray Bozkaya
exaly +2 more sources
Pelger-Huët anomaly and T-cell lymphoma. [PDF]
EJHaem, 2021 Schroers R, Mika T.
europepmc +1 more source
Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly. [PDF]
Am J Hum Genet, 2022 Thomas Q +62 more
europepmc +1 more source
Deletion of LBR N-terminal domains recapitulates Pelger-Huet anomaly phenotypes in mouse without disrupting X chromosome inactivation. [PDF]
Commun Biol, 2021 Young AN +9 more
europepmc +1 more source
Pelger-Huet anomaly: a case report.
Indian journal of pathology & microbiology, 2007 Impaired lobulation of neutrophils together with exaggerated clumping of chromatin, characteristic of Pelger-Huet anomaly was seen as an incidentalfinding in a 43-year old man who presented with depression. Peripheral blood and bone marrow findings and cytochemistry of the abnormal cells are described and the disease entity discussed.
Mona, Anand, Rajive, Kumar, Vinod, Raina
openaire +1 more source
Acquired Pelger-Huët anomaly in a patient treated with valganciclovir. [PDF]
BMJ Case Rep, 2019 Nieto-Borrajo E, Bermejo-Rodriguez A.
europepmc +1 more source