A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome

American Journal of Medical Genetics, Part A

Volumn 161, Issue 10, 2013, Pages 2528-2534

  Matsushita, Masaki ^a   Kitoh, Hiroshi ^a   Kaneko, Hiroshi ^a   Mishima, Kenichi ^a   Kadono, Izumi ^a   Ishiguro, Naoki ^a   Nishimura, Gen ^b  

^a NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b TOKYO METROPOLITAN CHILDREN'S MEDICAL CENTER   (Japan)

Author keywords

Campomelic dysplasia; Familial; Small patella syndrome; SOX9

Indexed keywords

GLUTAMINE; HISTIDINE; TRANSCRIPTION FACTOR SOX9;

ARTICLE; BONE DYSPLASIA; BONE MALFORMATION; BONE RADIOGRAPHY; CAMPOMELIC DYSPLASIA; CASE REPORT; CHILD; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; FAMILY ASSESSMENT; GENE FUNCTION; GENETIC ANALYSIS; GENETIC CODE; GENETIC VARIABILITY; HUMAN; KNEE DISEASE; MALE; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS; SMALL PATELLA SYNDROME; SOX9 GENE; TRANSACTIVATION; VALGUS DEFORMITY;

CAMPOMELIC DYSPLASIA; FAMILIAL; SMALL PATELLA SYNDROME; SOX9;

AMINO ACID SEQUENCE; ANIMALS; BONE DISEASES, DEVELOPMENTAL; CAMPOMELIC DYSPLASIA; CERCOPITHECUS AETHIOPS; CHILD; COMPUTATIONAL BIOLOGY; CONSERVED SEQUENCE; COS CELLS; GENETIC VARIATION; HIP; HUMANS; ISCHIUM; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PATELLA; PHENOTYPE; PIERRE ROBIN SYNDROME; SEQUENCE ALIGNMENT; SOX9 TRANSCRIPTION FACTOR; SYNDROME; T-BOX DOMAIN PROTEINS;

EID: 84884977513     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36134     Document Type: Article

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