A novel homozygous 5bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient

European Journal of Medical Genetics

Volumn 55, Issue 1, 2012, Pages 17-21

  Setijowati, E D ^a,b   Van Dijk, F S ^a   Cobben, J M ^c   Van Rijn, R R ^d   Sistermans, E A ^a   Faradz, S M H ^b   Kawiyana, S ^d   Pals, G ^a  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b DIPONEGORO UNIVERSITY   (Indonesia)

^c EMMA CHILDREN S HOSPITAL   (Netherlands)

^d Sanglah Hospital   (Indonesia)

Author keywords

Bruck syndrome; Collagen type I; FKBP10

Indexed keywords

ARTICLE; CASE REPORT; EXON; FKBP10 GENE; GENE; GENE DELETION; GENE SEQUENCE; HOMOZYGOSITY; HUMAN; INDONESIA; INTRON; JOINT CONTRACTURE; JOINT LIMITATION; KYPHOSCOLIOSIS; MALE; MEDICAL HISTORY; MORTALITY; NUCLEOTIDE SEQUENCE; OSTEOGENESIS IMPERFECTA; OSTEOPENIA; PES EQUINOVARUS; WALKING DIFFICULTY; WHEELCHAIR; ADULT; ARTHROGRYPOSIS; FATALITY; GENETIC SCREENING; GENETICS; HOMOZYGOTE; PATHOLOGY; PEDIGREE;

FK 506 BINDING PROTEIN; FKBP10 PROTEIN, HUMAN; PLOD2 PROTEIN, HUMAN; PROCOLLAGEN LYSINE 2 OXOGLUTARATE 5 DIOXYGENASE;

ADULT; ARTHROGRYPOSIS; BASE SEQUENCE; FATAL OUTCOME; GENE DELETION; GENETIC TESTING; HOMOZYGOTE; HUMANS; INDONESIA; MALE; OSTEOGENESIS IMPERFECTA; PEDIGREE; PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE; TACROLIMUS BINDING PROTEINS;

EID: 84857190888     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2011.10.002     Document Type: Article

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