Condition: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES


rs374343844 in LBR gene and PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES PMID 25348816 2015 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.

PMID 23824842 2013 Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR.