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Article

Autosomal recessive hyposegmentation of granulocytes in Australian Shepherd Dogs indicates a role for LMBR1L in myeloid leukocytes.

PLoS genetics - 1 Jun 2023

Lourdes Frehner Bianca, Christen Matthias, Reichler Iris M, Jagannathan Vidhya, Novacco Marilisa, Riond Barbara, Peters Laureen M, Suárez Sánchez-Andrade José, Pieńkowska-Schelling Aldona, Schelling Claude, Kipar Anja, Leeb Tosso, Balogh Orsolya

Abstract excerpt

Pelger-Huët anomaly (PHA) in humans is an autosomal dominant hematological phenotype without major clinical consequences. PHA involves a characteristic hyposegmentation of granulocytes (HG). Human PHA is caused by heterozygous loss of function variants in the LBR gene encoding lamin receptor B. Bi-allelic variants and complete deficiency of LBR cause the much more severe Greenberg skeletal dysplasia which is...

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PMID: 37347778
DOI: 10.1371/journal.pgen.1010805
PMCID: PMC10321630

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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