Literature DB >> 6794302

Homozygous form of the Pelger-Huët leukocyte anomaly in man.

J Aznar, A Vaya.   

Abstract

A report on a new case of Pelger-Huët (PH) leukocyte anomaly in the homozygous form in an 18-month-old girl is presented. Clinically, the proband shows no special symptoms dependent on the leukocyte anomaly, but polydactyly affects both hands (six fingers on one hand) and feet (six toes on both feet). Her pedigree reveals the existence of three couples in which both husband and wife are heterozygous carriers of the PH anomaly. Study of the family lineage suggests that transmission of the leukocyte anomaly is prevailingly dominant in nature with complete penetration and variable expression.

Entities:  

Mesh:

Year:  1981        PMID: 6794302     DOI: 10.1159/000207095

Source DB:  PubMed          Journal:  Acta Haematol        ISSN: 0001-5792            Impact factor:   2.195


  4 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.  Dosage effect of zero to three functional LBR-genes in vivo and in vitro.

Authors:  Sophia Gravemann; Nele Schnipper; Hannes Meyer; Amparo Vaya; Malgorzata Jm Nowaczyk; Anna Rajab; Wolf-Karsten Hofmann; Bastian Salewsky; Holger Tönnies; Heidemarie Neitzel; Hans H Stassen; Karl Sperling; Katrin Hoffmann
Journal:  Nucleus       Date:  2010-01-03       Impact factor: 4.197

3.  Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene.

Authors:  Hans R Waterham; Janet Koster; Petra Mooyer; Gerard van Noort Gv; Richard I Kelley; William R Wilcox; Ronald J A Wanders; Raoul C M Hennekam; Jan C Oosterwijk
Journal:  Am J Hum Genet       Date:  2003-02-28       Impact factor: 11.025

4.  Mouse neutrophils lacking lamin B-receptor expression exhibit aberrant development and lack critical functional responses.

Authors:  Peter Gaines; Chiung W Tien; Ada L Olins; Donald E Olins; Leonard D Shultz; Lisa Carney; Nancy Berliner
Journal:  Exp Hematol       Date:  2008-06-11       Impact factor: 3.084

  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.