Case report: Multiple fractures in a patient with mutations of TWIST1 and TNSALP

Clinical Orthopaedics and Related Research

Volumn 466, Issue 4, 2008, Pages 990-996

  Barvencik, Florian ^a   Gebauer, Matthias ^a   Schinke, Thorsten ^a   Amling, Michael ^a  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ALKALINE PHOSPHATASE; METAL; METHACRYLIC ACID METHYL ESTER; NUCLEAR PROTEIN; PHOSPHATASE; PROTEIN TWIST1; PYRIDOXAL 5 PHOSPHATE; TNSALP ENZYME; TRANSCRIPTION FACTOR TWIST; TWIST1 PROTEIN, HUMAN;

ACROCEPHALOSYNDACTYLY; ADULT; ANAMNESIS; ARTICLE; BONE BIOPSY; BONE MINERALIZATION; BONE SCREW; CASE REPORT; CHROMOSOMAL LOCALIZATION; CHROMOSOME 7; CLINICAL EXAMINATION; CRANIAL SUTURE; ENZYME ACTIVITY; FRACTURE; GENE AMPLIFICATION; GENE FUSION; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; HYPOPHOSPHATASIA; INHERITANCE; INTRAMEDULLARY NAIL; MALE; MUSCLE ATROPHY; OSTEOSYNTHESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RARE DISEASE; BLOOD; CRANIOFACIAL SYNOSTOSIS; ENZYMOLOGY; GENETICS; GENOTYPE; MULTIPLE TRAUMA; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PATHOPHYSIOLOGY; PHENOTYPE;

ACROCEPHALOSYNDACTYLIA; ADULT; ALKALINE PHOSPHATASE; CALCIFICATION, PHYSIOLOGIC; CRANIOSYNOSTOSES; DNA MUTATIONAL ANALYSIS; FRACTURES, BONE; GENOTYPE; HUMANS; HYPOPHOSPHATASIA; MALE; MULTIPLE TRAUMA; MUTATION; NUCLEAR PROTEINS; PHENOTYPE; TWIST TRANSCRIPTION FACTOR;

EID: 43349102402     PISSN: 0009921X     EISSN: 15281132     Source Type: Journal    
DOI: 10.1007/s11999-008-0123-9     Document Type: Article

References (21)

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