Autosomal-Dominant Microtia Linked to Five Tandem Copies of a Copy-Number-Variable Region at Chromosome 4p16

American Journal of Human Genetics

Volumn 82, Issue 1, 2008, Pages 181-187

  Balikova, Irina ^a   Martens, Kevin ^a   Melotte, Cindy ^a   Amyere, Mustapha ^b   Van Vooren, Steven ^c   Moreau, Yves ^c   Vetrie, David ^d   Fiegler, Heike ^d   Carter, Nigel P ^d   Liehr, Thomas ^e   Vikkula, Miikka ^b   Matthijs, Gert ^a   Fryns, Jean Pierre ^a   Casteels, Ingele ^a   Devriendt, Koen ^a   Vermeesch, Joris Robert ^a  

^a UNIVERSITY OF LEUVEN   (Belgium)

^b UNIVERSITÉ CATHOLIQUE DE LOUVAIN   (Belgium)

^c Katholieke Universiteit Leuven   (Belgium)

^d WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^e FRIEDRICH SCHILLER UNIVERSITY JENA   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME 4P; CHROMOSOME 4P16; CHROMOSOME ANALYSIS; COLOBOMA; COPY NUMBER VARIBLE REGION; GENETIC LINKAGE; HUMAN; LACRIMAL DUCT; MICROTIA; PRIORITY JOURNAL; CHROMOSOME 4; CONGENITAL MALFORMATION; DOMINANT GENE; EXTERNAL EAR; FEMALE; GENE DOSAGE; GENETICS; MALE; MULTIPLE MALFORMATION SYNDROME; PATHOLOGY; PEDIGREE; SYNDROME;

ABNORMALITIES, MULTIPLE; CHROMOSOMES, HUMAN, PAIR 4; COLOBOMA; EAR, EXTERNAL; FEMALE; GENE DOSAGE; GENES, DOMINANT; HUMANS; MALE; NASOLACRIMAL DUCT; PEDIGREE; SYNDROME;

EID: 38749125561     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2007.08.001     Document Type: Article

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