Spondyloepiphyseal dysplasia congenita with absent femoral head

Journal of Pediatric Orthopaedics Part B

Volumn 13, Issue 2, 2004, Pages 63-69

  Jung, Sung Chul ^a   Mathew, Santosh ^b   Li, Qi Wei ^b   Lee, Yong Jun ^a   Lee, Kwang Soo ^a   Song, Hae Ryong ^b  

^a Korea National Institute of Health   (South Korea)

^b Gyeongsang National University   (South Korea)

Author keywords

Absent femoral head; Cervical instability; COL2A1; Collagen; Mutation; Spondyloepiphyseal dysplasia congenita

Indexed keywords

GLYCINE; SERINE; VALINE;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; ATLANTOAXIAL JOINT; CASE REPORT; CHONDRODYSPLASIA; CLEFT PALATE; CLINICAL FEATURE; COL2A1 GENE; FEMUR HEAD; FLATFOOT; GENE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; IMAGE ANALYSIS; INHERITANCE; MALE; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; ODONTOID PROCESS; PHENOTYPE; PRIORITY JOURNAL; SHORT STATURE; SPONDYLOEPIPHYSEAL DYSPLASIA; SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA;

ADOLESCENT; ADULT; ATLANTO-AXIAL JOINT; COLLAGEN TYPE II; DNA MUTATIONAL ANALYSIS; FEMUR HEAD; HIP JOINT; HUMANS; JOINT INSTABILITY; MALE; MUTATION, MISSENSE; OSTEOCHONDRODYSPLASIAS; PHENOTYPE; SEQUENCE ANALYSIS; TOMOGRAPHY, X-RAY COMPUTED;

EID: 1642388383     PISSN: 1060152X     EISSN: None     Source Type: Journal    
DOI: 10.1097/00009957-200403000-00001     Document Type: Article

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