Nara Sobreira Peggy Modaff Gary Steel Jing You Sonia Nanda Julie Hoover-Fong David Valle Richard M Pauli
10.1002/ajmg.a.36808
Am J Med Genet A
2015 Jan;167A(1):159-63.
pelger-huet anomaly bone dysplasia lamin b receptor metaphyseal dysplasia phenotype-genotype correlation spondylometaphyseal dysplasia spontaneously remitting bone dysplasias whole exome sequencing
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/25348816/
Mutation / genetics Osteochondrodysplasias / genetics Osteochondrodysplasias / pathology Receptors, Cytoplasmic and Nuclear / genetics
Mutation / genetics Osteochondrodysplasias / genetics Osteochondrodysplasias / pathology Receptors, Cytoplasmic and Nuclear / genetics Case Reports Adolescent Adult Child Child, Preschool Female Humans Infant Infant, Newborn Male Osteochondrodysplasias / diagnostic imaging Phenotype Pregnancy Radiography Spine / diagnostic imaging Receptors, Cytoplasmic and Nuclear lamin B receptor
PMC4882113
25348816
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
2015