Somatic uniparental isodisomy explains multifocality of glomuvenous malformations

American Journal of Human Genetics

Volumn 92, Issue 2, 2013, Pages 188-196

  Amyere, Mustapha ^a   Aerts, Virginie ^a   Brouillard, Pascal ^a   McIntyre, Brendan A S ^a   Duhoux, François P ^b   Wassef, Michel ^c   Enjolras, Odile ^d   Mulliken, John B ^e   Devuyst, Olivier ^f   Antoine Poirel, Hélène ^b   Boon, Laurence M ^a,b   Vikkula, Miikka ^a,b  

^a DE DUVE INSTITUTE   (Belgium)

^b CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

^c HÔPITAL LARIBOISIÈRE   (France)

^d ARMAND TROUSSEAU HOSPITAL   (France)

^e BOSTON CHILDREN S HOSPITAL   (United States)

^f UNIVERSITÉ CATHOLIQUE DE LOUVAIN   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; MESSENGER RNA;

ALLELE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME 1P; CLINICAL ARTICLE; COPY NUMBER VARIATION; FEMALE; GENE DELETION; GENE INSERTION; GENETIC VARIABILITY; GLOMUVENOUS MALFORMATION; HETEROZYGOSITY LOSS; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; LASER CAPTURE MICRODISSECTION; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN DEFECT; SOMATIC MUTATION; UNIPARENTAL DISOMY;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; CHROMOSOME BREAKAGE; CHROMOSOMES, HUMAN, PAIR 1; DNA; FEMALE; GLOMUS TUMOR; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MUTATION; PARAGANGLIOMA, EXTRA-ADRENAL; POLYMORPHISM, SINGLE NUCLEOTIDE; RNA, MESSENGER; UNIPARENTAL DISOMY;

EID: 84873704055     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.12.017     Document Type: Article

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