The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family)

Pediatric Radiology

Volumn 42, Issue 1, 2012, Pages 15-23

  Nemec, Stefan F ^a   Cohn, Daniel H ^a   Krakow, Deborah ^a   Funari, Vincent A ^a   Rimoin, David L ^a   Lachman, Ralph S ^a  

^a CEDARS SINAI MEDICAL CENTER   (United States)

Author keywords

Radiography; Skeletal dysplasias; Spondylometaphyseal dysplasias; TRPV4

Indexed keywords

VANILLOID RECEPTOR 4;

ACETABULUM; AUTOSOMAL DOMINANT DISORDER; BONE DYSPLASIA; BONE MASS; BONE RADIOGRAPHY; BRACHYOLMIA; CERVICAL SPINE; DIAGNOSTIC VALUE; GENE MUTATION; GROWTH PLATE; HUMAN; METACARPAL BONE; OSSIFICATION; OUTCOME ASSESSMENT; PRIORITY JOURNAL; REVIEW; SCOLIOSIS; SPONDYLOLYSIS; VERTEBRA BODY;

DNA MUTATIONAL ANALYSIS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MULTIGENE FAMILY; POLYMORPHISM, SINGLE NUCLEOTIDE; SPONDYLOSIS; TRPV CATION CHANNELS;

EID: 84860420415     PISSN: 03010449     EISSN: 14321998     Source Type: Journal    
DOI: 10.1007/s00247-011-2229-6     Document Type: Review

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