Segmental haplosufficiency: Transmitted deletions of 2p12 include a pancreatic regeneration gene cluster and have no apparent phenotypic consequences

European Journal of Human Genetics

Volumn 13, Issue 3, 2005, Pages 283-291

  Barber, John C K ^a,b   Thomas, N Simon ^a,b   Collinson, Morag N ^a   Dennis, Nick R ^b,c   Liehr, Thomas ^d   Weise, Anja ^d   Belitz, Britta ^e   Pfeiffer, Lutz ^e   Kirchhoff, Maria ^f   Krag Olsen, Bente ^g   Lundsteen, Claes ^f  

^a SALISBURY DISTRICT HOSPITAL   (United Kingdom)

^b UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^c PRINCESS ANNE HOSPITAL   (United Kingdom)

^d FRIEDRICH SCHILLER UNIVERSITY JENA   (Germany)

^e Medical Laboratory   (Germany)

^f University Hospital   (Germany)

^g AARHUS UNIVERSITY HOSPITAL   (Denmark)

Author keywords

2p12; Chromosome Anomaly Collection; Deletion; Haplosufficiency; Normal phenotype; REG genes; Transmitted imbalance; www.som.soton.ac.uk research geneticsdiv

Indexed keywords

ANEUPLOIDY; ARTICLE; CHROMOSOME 2P; FAMILY STUDY; GENE CLUSTER; GENE DELETION; GENE DOSAGE; GENE LOCUS; GENE MAPPING; GROWTH RETARDATION; HEMIZYGOSITY; HUMAN; INHERITANCE; NEPHROBLASTOMA; NUCLEOTIDE SEQUENCE; PANCREAS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PUBLISHING; TERATOLOGY; TISSUE REGENERATION;

ADULT; CHILD, PRESCHOOL; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 18; CHROMOSOMES, HUMAN, PAIR 2; FEMALE; HUMANS; INFANT; KARYOTYPING; MALE; MULTIGENE FAMILY; PANCREAS; PEDIGREE; PHENOTYPE; PRENATAL DIAGNOSIS; REGENERATION; SEQUENCE DELETION; TRISOMY; WILMS TUMOR;

EID: 20144376465     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201267     Document Type: Article

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