A de novo balanced translocation t(7;12)(p21.2;p12.3) in a patient with Saethre-Chotzen-like phenotype downregulates TWIST and an osteoclastic protein-tyrosine phosphatase, PTP-oc

European Journal of Medical Genetics

Volumn 54, Issue 5, 2011, Pages

  De Marco, Patrizia ^a   Raso, Alessandro ^a   Beri, Silvana ^b   Gimelli, Stefania ^c   Merello, Elisa ^a   Mascelli, Samantha ^a   Baldi, Maurizia ^d   Baffico, Ave Maria ^d   Pavanello, Marco ^a   Cama, Armando ^a   Capra, Valeria ^a   Giorda, Roberto ^b   Gimelli, Giorgio ^a  

^a G GASLINI INSTITUTE   (Italy)

^b SCIENTIFIC INSTITUTE   (Italy)

^c GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^d GALLIERA HOSPITAL   (Italy)

Author keywords

Craniosynostosis; PTP oc; Saethre Chotzen syndrome; T(7; 12)(p21.2; p12.3) translocation; TWIST1

Indexed keywords

PROTEIN TYROSINE PHOSPHATASE; TRANSCRIPTION FACTOR TWIST;

ACROCEPHALOSYNDACTYLY; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BRACHYCEPHALY; CASE REPORT; CHROMOSOME 12; CHROMOSOME BREAKAGE; CHROMOSOME TRANSLOCATION; CLINICAL FEATURE; CRANIOFACIAL SYNOSTOSIS; DOWN REGULATION; FEMALE; GENETIC CODE; HAPLOINSUFFICIENCY; HEREDITY; HUMAN; HYPERTELORISM; INFANT; LIMB MALFORMATION; MOLECULAR CLONING; NUCLEOTIDE SEQUENCE; OSTEOCLAST; PALPEBRAL FISSURE; PHENOTYPE; PROTEIN EXPRESSION;

ACROCEPHALOSYNDACTYLIA; BRAIN; CHILD, PRESCHOOL; CHROMOSOME BREAKPOINTS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 12; CHROMOSOMES, HUMAN, PAIR 7; CPG ISLANDS; DNA METHYLATION; DOWN-REGULATION; FEMALE; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; HUMANS; INFANT; KARYOTYPING; MUTATION; PHENOTYPE; RECEPTOR-LIKE PROTEIN TYROSINE PHOSPHATASES, CLASS 3; RECEPTORS, FIBROBLAST GROWTH FACTOR; TRANSLOCATION, GENETIC; TWIST TRANSCRIPTION FACTOR;

EID: 79961126243     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2011.05.007     Document Type: Article

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