Duplication of the EFNB1 gene in familial hypertelorism: Imbalance in ephrin-B1 expression and abnormal phenotypes in humans and mice

Human Mutation

Volumn 32, Issue 8, 2011, Pages 930-938

  Babbs, Christian ^a   Stewart, Helen S ^b   Williams, Louise J ^b   Connell, Lyndsey ^b   Goriely, Anne ^a   Twigg, Stephen R F ^a   Smith, Kim ^b   Lester, Tracy ^b   Wilkie, Andrew O M ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b CHURCHILL HOSPITAL   (United Kingdom)

Author keywords

Cellular interference; CFNS; EFNB1; Hypertelorism; Imbalance; Teebi

Indexed keywords

CELL PROTEIN; DNA; EPHRIN B1; PJA1 PROTEIN; RING FINGER PROTEIN; STARD8 PROTEIN; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BACTERIAL ARTIFICIAL CHROMOSOME; CASE REPORT; CELL SELECTION; CHILD; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; COPY NUMBER VARIATION; CRANIOFACIAL SYNOSTOSIS; DNA SCREENING; FAMILIAL HYPERTELORISM; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DUPLICATION; GENE EXPRESSION; GENETIC ANALYSIS; GENETIC TRANSCRIPTION; HUMAN; HYPERTELORISM; MOLECULAR GENETICS; MOUSE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; X CHROMOSOME INACTIVATION;

ADULT; ALLELES; ANIMALS; BASE SEQUENCE; CHILD; CHROMOSOMES, HUMAN, X; EPHRIN-B1; FEMALE; GENE DUPLICATION; GENE EXPRESSION REGULATION; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; HYPERTELORISM; MICE; MICE, INBRED C57BL; MICE, TRANSGENIC; MIDDLE AGED; MOLECULAR SEQUENCE DATA; PEDIGREE; PHENOTYPE; SEQUENCE ALIGNMENT; TRANSCRIPTION, GENETIC; X CHROMOSOME INACTIVATION;

MUS;

EID: 79960838498     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21521     Document Type: Article

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