Heterozygous SOX9 mutations allowing for residual DNA-binding and transcriptional activation lead to the acampomelic variant of campomelic dysplasia

Human Mutation

Volumn 31, Issue 6, 2010, Pages

  Staffler, Alex ^a   Hammel, Markus ^a   Wahlbuhl, Mandy ^b   Bidlingmaier, Christoph ^a   Flemmer, Andreas W ^a   Pagel, Philipp ^c   Nicolai, Thomas ^a   Wegner, Michael ^b   Holzinger, Andreas ^a  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^c TECHNICAL UNIVERSITY OF MUNICH   (Germany)

Author keywords

Acampomelic campomelic dysplasia; Genotype phenotype correlation; Missense mutations; SOX9 gene

Indexed keywords

MUTANT PROTEIN; TRANSCRIPTION FACTOR SOX9; DNA; PROTEIN BINDING; SOX9 PROTEIN, HUMAN;

AMINO ACID SUBSTITUTION; ARTICLE; ARTIFICIAL VENTILATION; CAMPOMELIC DYSPLASIA; CASE REPORT; CHILD; CLINICAL FEATURE; CLUBFOOT; CONTROLLED STUDY; FEMALE; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HUMAN; KARYOTYPE 46,XY; MALE; MALFORMATION SYNDROME; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DNA BINDING; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; SCHOOL CHILD; SEX TRANSFORMATION; TRANSACTIVATION; TRANSCRIPTION INITIATION; WILD TYPE; ANIMAL; CELL NUCLEUS; CHLOROCEBUS AETHIOPS; COS 1 CELL LINE; FLUORESCENCE MICROSCOPY; GENETIC PREDISPOSITION; GENETIC TRANSFECTION; GENETICS; GENOTYPE; HETEROZYGOTE; METABOLISM; PATHOLOGY;

ANIMALS; CAMPOMELIC DYSPLASIA; CELL NUCLEUS; CERCOPITHECUS AETHIOPS; CHILD; CHILD, PRESCHOOL; COS CELLS; DNA; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HETEROZYGOTE; HUMANS; MALE; MICROSCOPY, FLUORESCENCE; MUTATION, MISSENSE; PROTEIN BINDING; SOX9 TRANSCRIPTION FACTOR; TRANSCRIPTIONAL ACTIVATION; TRANSFECTION;

EID: 77952724644     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21238     Document Type: Article

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