Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus

American Journal of Human Genetics

Volumn 91, Issue 4, 2012, Pages 629-635

  Spielmann, Malte ^a,b   Brancati, Francesco ^c,d   Krawitz, Peter M ^a   Robinson, Peter N ^a   Ibrahim, Daniel M ^b,e   Franke, Martin ^b   Hecht, Jochen ^b,e   Lohan, Silke ^a,b   Dathe, Katarina ^a   Nardone, Anna Maria ^d   Ferrari, Paola ^f   Landi, Antonio ^g   Wittler, Lars ^b   Timmermann, Bernd ^b   Chan, Danny ^h   Mennen, Ulrich ⁱ   Klopocki, Eva ^a,b   Mundlos, Stefan ^a,b,e  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^c CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^d TOR VERGATA UNIVERSITY HOSPITAL   (Italy)

^e Berlin Brandenburg Center for Regenerative Therapies   (Germany)

^f UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^g UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^h UNIVERSITY OF HONG KONG   (Hong Kong)

ⁱ Jacaranda Hospital   (South Africa)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; DROSOPHILA; ELBOW RADIOGRAPHY; GENE; GENE ACTIVATION; GENE DELETION; GENE REARRANGEMENT; GENE SEQUENCE; GENE STRUCTURE; GENE TRANSLOCATION; HUMAN; LIEBENBERG SYNDROME; LIMB MALFORMATION; PEDIGREE ANALYSIS; PITX1 GENE; PRIORITY JOURNAL;

ANIMALS; BRACHYDACTYLY; CARPAL BONES; COMPARATIVE GENOMIC HYBRIDIZATION; ELBOW JOINT; FEMALE; FINGERS; GENE DELETION; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENE REARRANGEMENT; GENES, HOMEOBOX; GENETIC LOCI; GENETIC PREDISPOSITION TO DISEASE; GENOME, HUMAN; HAND DEFORMITIES, CONGENITAL; HUMANS; MALE; MICE; MICE, TRANSGENIC; PAIRED BOX TRANSCRIPTION FACTORS; SEQUENCE ANALYSIS, DNA; SYNOSTOSIS; TRANSFORMATION, GENETIC; TRANSLOCATION, GENETIC; WRIST JOINT;

MUS MUSCULUS;

EID: 84867276487     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.08.014     Document Type: Article

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