SOX9 dimerization domain mutation mimicking type 2 collagen disorder phenotype

European Journal of Medical Genetics

Volumn 57, Issue 6, 2014, Pages 298-301

  Takenouchi, Toshiki ^a   Matsuzaki, Yohei ^a   Yamamoto, Kazuka ^b   Kosaki, Keisuke ^c   Torii, Chiharu ^a   Takahashi, Takao ^a   Kosaki, Kenjiro ^a  

^a KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b National Rehabilitation Centre for Children with Disabilities   (Japan)

^c Tokyo Metropol Kita Med/Rehab C   (Japan)

Author keywords

Campomelic dysplasia; SOX9; Type 2 collagen disorders

Indexed keywords

COLLAGEN TYPE 2; TRANSCRIPTION FACTOR SOX9; SOX9 PROTEIN, HUMAN;

APGAR SCORE; ARTICLE; CASE REPORT; CESAREAN SECTION; CHILD; COLLAGEN DISEASE; COLLAGEN TYPE 2 DISORDER; DIMERIZATION; FEMALE; GENE MUTATION; GROWTH RETARDATION; HUMAN; HYDRAMNIOS; HYPOPLASIA; MYOPIA; PES EQUINOVARUS; PHYSICAL EXAMINATION; PIERRE ROBIN SYNDROME; PRESCHOOL CHILD; RADIODIAGNOSIS; STRIDOR; TRACHEOMALACIA; UPPER RESPIRATORY TRACT INFECTION; BINDING SITE; CHEMISTRY; COLLAGEN DISEASES; DEVELOPMENTAL DISABILITIES; DIFFERENTIAL DIAGNOSIS; GENETICS; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PROTEIN MULTIMERIZATION;

BINDING SITES; CHILD, PRESCHOOL; COLLAGEN DISEASES; COLLAGEN TYPE II; DEVELOPMENTAL DISABILITIES; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MUTATION, MISSENSE; PROTEIN MULTIMERIZATION; SOX9 TRANSCRIPTION FACTOR;

EID: 84901004586     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2014.03.012     Document Type: Article

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