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

American Journal of Medical Genetics, Part A

Volumn 167, Issue 1, 2015, Pages 159-163

  Sobreira, Nara ^a   Modaff, Peggy ^b   Steel, Gary ^a   You, Jing ^a   Nanda, Sonia ^c   Hoover Fong, Julie ^a   Valle, David ^a   Pauli, Richard M ^b  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

^c WOMEN S COLLEGE HOSPITAL   (Canada)

Author keywords

Bone dysplasia; Lamin B receptor; Metaphyseal dysplasia; Pelger Huet anomaly; Phenotype genotype correlation; Spondylometaphyseal dysplasia; Spontaneously remitting bone dysplasias; Whole exome sequencing

Indexed keywords

ADOLESCENT; ARM MOVEMENT; ARTICLE; BODY HEIGHT; BODY WEIGHT; BONE DYSPLASIA; BONE RADIOGRAPHY; BRACHYDACTYLY; CAMPTODACTYLY; CASE REPORT; CLINICAL FEATURE; FLEXION CONTRACTURE; GENE; GENETIC HETEROGENEITY; HUMAN; LBR GENE; LUMBOSACRAL HYPERLORDOSIS; MALE; METAPHYSIS; NONSENSE MUTATION; PHENOTYPE; PLATYSPONDYLY; PRIORITY JOURNAL; SPONDYLOMETAPHYSEAL DYSPLASIA; VALGUS KNEE; ADULT; CHILD; CHONDRODYSPLASIA; FEMALE; GENETICS; INFANT; MUTATION; NEWBORN; PATHOLOGY; PREGNANCY; PRESCHOOL CHILD; RADIOGRAPHY; SPINE;

CELL RECEPTOR; LAMIN B RECEPTOR;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; OSTEOCHONDRODYSPLASIAS; PHENOTYPE; PREGNANCY; RECEPTORS, CYTOPLASMIC AND NUCLEAR; SPINE;

EID: 84919678270     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36808     Document Type: Article

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