Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans

American Journal of Medical Genetics, Part A

Volumn 155, Issue 6, 2011, Pages 1448-1452

  Shaheen, Ranad ^a   Al Owain, Mohammed ^a,b   Faqeih, Eissa ^c   Al Hashmi, Nadia ^a   Awaji, Ali ^d   Al Zayed, Zayed ^a   Alkuraya, Fowzan S ^a,b,e  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b ALFAISAL UNIVERSITY   (Saudi Arabia)

^c KING FAHAD MEDICAL CITY   (Saudi Arabia)

^d KING FAHAD GENERAL HOSPITAL   (Saudi Arabia)

^e KING KHALID UNIVERSITY HOSPITAL   (Saudi Arabia)

Author keywords

Bisphosphonate; Bruck syndrome; Collagen; Osteogenesis imperfecta; Phenotypic variability

Indexed keywords

PAMIDRONIC ACID;

ADOLESCENT; ARTICLE; CHILD; CLINICAL ARTICLE; CONSANGUINITY; FAMILY; FAMILY HISTORY; FEMALE; FEMUR FRACTURE; FKBP10 GENE; GENE; GENE MUTATION; HUMAN; INFANT; MALE; NEWBORN; OSTEOGENESIS IMPERFECTA; PELVIS FRACTURE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RIB FRACTURE; SAUDI ARABIA; SCHOOL CHILD; SCOLIOSIS;

ADOLESCENT; ARTHROGRYPOSIS; BASE SEQUENCE; CHILD; FEMALE; GENE COMPONENTS; GENES, RECESSIVE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; OSTEOGENESIS IMPERFECTA; SAUDI ARABIA; SEQUENCE ANALYSIS, DNA; TACROLIMUS BINDING PROTEINS;

EID: 79956198322     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34025     Document Type: Article

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