Neonatal High Bone Mass with First Mutation of the NF-κB Complex: Heterozygous de Novo Missense (p.Asp512Ser) RELA (Rela/p65)

Journal of Bone and Mineral Research

Volumn 31, Issue 1, 2016, Pages 163-172

  Frederiksen, Anja L ^a,b   Larsen, Martin J ^a,b   Brusgaard, Klaus ^a,b   Novack, Deborah V ^c   Knudsen, Peter Juel Thiis ^b   Schrøder, Henrik Daa ^a   Qiu, Weimin ^a   Eckhardt, Christina ^a   McAlister, William H ^d   Kassem, Moustapha ^a   Mumm, Steven ^c,e   Frost, Morten ^a   Whyte, Michael P ^c,e  

^a ODENSE UNIVERSITY HOSPITAL   (Denmark)

^b UNIVERSITY OF SOUTHERN DENMARK   (Denmark)

^c BARNES JEWISH HOSPITAL   (United States)

^d ST LOUIS CHILDREN S HOSPITAL   (United States)

^e SHRINERS HOSPITAL FOR CHILDREN   (United States)

Author keywords

OSTEOBLAST; OSTEOCLAST; OSTEOPETROSIS; OSTEOSCLEROSIS; TRIO EXOME SEQUENCING

Indexed keywords

IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; LIPOPOLYSACCHARIDE; PROTEIN P50; PROTEIN P52; TRANSCRIPTION FACTOR RELA; RELA PROTEIN, HUMAN;

ALBERS SCHOENBERG DISEASE; ARTICLE; AUTOPSY; BONE MASS; BONE RADIOGRAPHY; BONE REMODELING; CASE REPORT; CELL FUNCTION; CELL MATURATION; CELL SURVIVAL; EXOME; EXON; FIBROBLAST; GENE SEQUENCE; GENETIC ASSOCIATION; HIGH BONE MASS; HISTOPATHOLOGY; HUMAN; INVESTIGATIVE PROCEDURES; MALE; MEDICAL DOCUMENTATION; MISSENSE MUTATION; NEWBORN; OSSIFICATION; OSTEOCLAST; OSTEOLYSIS; OSTEOSCLEROSIS; ADULT; AMINO ACID SUBSTITUTION; DIAGNOSTIC IMAGING; FEMALE; GENETIC DISORDER; GENETICS; METABOLISM; RADIOGRAPHY; SIGNAL TRANSDUCTION;

ADULT; AMINO ACID SUBSTITUTION; FEMALE; GENETIC DISEASES, INBORN; HUMANS; INFANT, NEWBORN; MALE; MUTATION, MISSENSE; OSTEOPETROSIS; RADIOGRAPHY; SIGNAL TRANSDUCTION; TRANSCRIPTION FACTOR RELA;

EID: 84957435029     PISSN: 08840431     EISSN: 15234681     Source Type: Journal    
DOI: 10.1002/jbmr.2590     Document Type: Article

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