{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T16:35:53Z","timestamp":1791477353205,"version":"4.3.4"},"reference-count":32,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,9,4]],"date-time":"2025-09-04T00:00:00Z","timestamp":1756944000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:p>\n                    Pelger-Hu\u00ebt anomaly (PHA), an autosomal dominant disorder characterized by abnormal granulocyte morphology, was first described in 1928. Mutations in the lamin B receptor (\n                    <jats:italic>LBR<\/jats:italic>\n                    ) gene cause a phenotypic spectrum ranging from isolated PHA, PHA with mild skeletal abnormalities, to the embryonic-lethal Greenberg skeletal dysplasia. We report a Chinese boy presenting peripheral blood granulocyte abnormalities associated with a novel\n                    <jats:italic>LBR<\/jats:italic>\n                    gene mutation. Whole-exome sequencing uncovered the\n                    <jats:italic>LBR<\/jats:italic>\n                    gene heterozygous mutation, NM_194442.2: c.561C\u2009&amp;gt;\u2009G (p.Tyr187*). Notably, the patient exhibited scoliosis secondary to hemivertebrae, potentially representing a previously unreported skeletal manifestation of mutations in the\n                    <jats:italic>LBR<\/jats:italic>\n                    gene. Analyzing the differential diagnosis between PHA, immature granulocytes, and pseudo-PHA, along with elucidating genotype-phenotype correlations for\n                    <jats:italic>LBR<\/jats:italic>\n                    mutations, is crucial for advancing our understanding of PHA and related disorders.\n                  <\/jats:p>","DOI":"10.3389\/fped.2025.1587175","type":"journal-article","created":{"date-parts":[[2025,9,4]],"date-time":"2025-09-04T05:34:59Z","timestamp":1756964099000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":2,"title":["Novel lamin B receptor mutation (c.561C\u2009&gt;\u2009G) in a patient with Pelger-Hu\u00ebt anomaly: a case 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