Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28Mb deletion encompassing the TBX3 gene

European Journal of Human Genetics

Volumn 14, Issue 12, 2006, Pages 1274-1279

  Klopocki, Eva ^a   Neumann, Luitgard M ^a   Tönnies, Holger ^a   Ropers, Hans Hilger ^b   Mundlos, Stefan ^a   Ullmann, Reinhard ^b  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR TBX3; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CHROMOSOME 12Q; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CYTOGENETICS; FACE DYSMORPHIA; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE MUTATION; HUMAN; HUMAN CELL; LYMPHOCYTE; MENTAL DEFICIENCY; MICROARRAY ANALYSIS; MOLECULAR CLONING; MUTATIONAL ANALYSIS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; ULNAR MAMMARY SYNDROME;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; CHROMOSOME DELETION; FEMALE; HUMANS; MENTAL RETARDATION; NUCLEIC ACID HYBRIDIZATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHENOTYPE; T-BOX DOMAIN PROTEINS; ULNA;

EID: 33751350666     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201696     Document Type: Article

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