Literature DB >> 7184191

[Homozygous Pelger-Huët anomaly. Apropos of a case].

J Gastearena, M T Orue, E Pérez Equiza, M C Hernández, M F Ardanaz, M J Uriz.   

Abstract

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Year:  1982        PMID： 7184191

Source DB:  PubMed          Journal:  Sangre (Barc)        ISSN： 0036-4355


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  2 in total

1.  An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: further definition of the phenotypic heterogeneity of LBR-bone dysplasias.

Authors:  Nara Sobreira; Peggy Modaff; Gary Steel; Jing You; Sonia Nanda; Julie Hoover-Fong; David Valle; Richard M Pauli
Journal:  Am J Med Genet A       Date:  2014-10-27       Impact factor: 2.802

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

Authors:  Tayfun Cinleti; Ceren Yılmaz Uzman; Şefika Akyol; Özlem Tüfekçi; Murat Derya Erçal; Özlem Giray Bozkaya
Journal:  Mol Syndromol       Date:  2022-01-12
  2 in total

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