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Keywords: Pelger-Huet anomaly
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Journal Articles

A Family of LBR Biallelic Pathogenic Variants Resulting in Rhizomelic Skeletal Dysplasia with Pelger-Huët Anomaly

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Subject Area:
Genetics
Esra Dirimtekin, Çekdar Kapazan, Barış Yılmaz, Ahmet Mert Yanık, Bilgen Bilge Geckinli
Journal: Molecular Syndromology
Mol Syndromol (2025)
https://doi.org/10.1159/000544916
Published Online: 03 March 2025
... in the LBR gene have been associated with Pelger-Huët anomaly (PHA, OMIM #169400), while homozygous or compound heterozygous mutations have been associated with rhizomelic skeletal dysplasia, with or without PHA (OMIM #618019) and Greenberg dysplasia (OMIM #215140). Case Presentation: We report a 4-year-old...
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Journal Articles

Blended Phenotype of Pelger-Huet Anomaly with Osteochondroma and Autosomal Recessive Deafness with Enlarged Vestibular Aqueduct

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Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
Tayfun Cinleti, Ceren Yılmaz Uzman, Şefika Akyol, Özlem Tüfekçi, Murat Derya Erçal, Özlem Giray Bozkaya
Journal: Molecular Syndromology
Mol Syndromol (2022) 13 (3): 200–205.
https://doi.org/10.1159/000519364
Published Online: 12 January 2022
...Tayfun Cinleti; Ceren Yılmaz Uzman; Şefika Akyol; Özlem Tüfekçi; Murat Derya Erçal; Özlem Giray Bozkaya Pelger-Huet anomaly (PHA) is a benign hematological anomaly that is characterized by impaired lobulation of neutrophils with a coarse nuclear chromatin. Skeletal abnormalities may accompany...
View articletitled, Blended Phenotype of Pelger-Huet Anomaly with Osteochondroma and Autosomal Recessive Deafness with Enlarged Vestibular Aqueduct
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