Co-segregation of trichorhinophalangeal syndrome with a t(8;13)(q23.3;q21.31) familial translocation that appears to increase TRPS1 gene expression

Human Genetics

Volumn 132, Issue 11, 2013, Pages 1287-1299

  David, Dezso ^a   Marques, Bárbara ^a   Ferreira, Cristina ^a   Araújo, Carlos ^a   Vieira, Luís ^a   Soares, Gabriela ^b   Dias, Cristina ^b,c   Pinto, Maximina ^b  

^a NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

^b NATIONAL INSTITUTE OF HEALTH   (Portugal)

^c WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CADHERIN; PROTOCADHERIN 20; PROTOCADHERIN 9; UNCLASSIFIED DRUG;

5' UNTRANSLATED REGION; ALLELE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BRAIN MALFORMATION; CASE REPORT; CHROMOSOME 13Q; CHROMOSOME 8Q; CHROMOSOME SEGREGATION; CHROMOSOME TRANSLOCATION; CLINICAL FEATURE; ENHANCER REGION; FAMILIAL DISEASE; FEMALE; GENE; GENE EXPRESSION; GENE TRANSLOCATION; GENETIC DISORDER; HUMAN; HUMAN CELL; INTELLECTUAL IMPAIRMENT; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; TANDEM REPEAT; TRANSPOSON; TRICHORHINOPHALANGEAL SYNDROME; TRPS1 GENE;

ALLELES; BASE SEQUENCE; CELL LINE; COMPARATIVE GENOMIC HYBRIDIZATION; DNA-BINDING PROTEINS; FEMALE; FINGERS; GENE AMPLIFICATION; GENE EXPRESSION; HAIR DISEASES; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; LANGER-GIEDION SYNDROME; MALE; MOLECULAR SEQUENCE DATA; NOSE; PEDIGREE; PHENOTYPE; RNA; SEQUENCE ANALYSIS, DNA; TRANSCRIPTION FACTORS; TRANSLOCATION, GENETIC;

EID: 84888360095     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-013-1333-0     Document Type: Article

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