Symmetrical enchondromatosis is associated with duplication of 12p11.23 to 12p11.22 including PTHLH

American Journal of Medical Genetics, Part A

Volumn 152 A, Issue 12, 2010, Pages 3124-3128

  Collinson, Morag ^a   Leonard, Samantha J ^b   Charlton, Jocelyn ^a   Crolla, John A ^a   Silve, Caroline ^c,d   Hall, Christine M ^e   Oglivie, Colin ^f   James, Margaret A ^b   Smithson, Sarah F ^b  

^a SALISBURY DISTRICT HOSPITAL   (United Kingdom)

^b ST MICHAEL'S HOSPITAL   (United Kingdom)

^c BICHAT HOSPITAL   (France)

^d INSERM   (France)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

^f MUSGROVE PARK HOSPITAL   (United Kingdom)

Author keywords

Enchondromatosis; Novo duplication of chromosome 12p11.23 to 12p11.22; PTHLH

Indexed keywords

PARATHYROID HORMONE RECEPTOR 1;

ADULT; ARTICLE; BLOMSTRAND DYSPLASIA; BONE DYSPLASIA; BRACHYDACTYLY; BRAIN HEMORRHAGE; CASE REPORT; CHROMOSOME 12P; CHROMOSOME DUPLICATION; COMPARATIVE GENOMIC HYBRIDIZATION; COMPUTER ASSISTED TOMOGRAPHY; DISEASE ASSOCIATION; DOWN REGULATION; DYSPHASIA; EIKEN DYSPLASIA; ENCHONDROMATOSIS; FEMALE; GENE EXPRESSION; GENE MUTATION; HEADACHE; HUMAN; JANSEN DYSPLASIA; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; VOMITING; WEAKNESS;

ADOLESCENT; BONE AND BONES; BONE DISEASES, DEVELOPMENTAL; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 12; COMPARATIVE GENOMIC HYBRIDIZATION; DNA; DOWN-REGULATION; ENCHONDROMATOSIS; FEMALE; GENES, DOMINANT; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MUTATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PARATHYROID HORMONE-RELATED PROTEIN; RECEPTOR, PARATHYROID HORMONE, TYPE 1; SIGNAL TRANSDUCTION;

EID: 78649641631     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33567     Document Type: Article

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