Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1

PLoS ONE

Volumn 9, Issue 9, 2014, Pages

  Jorgez, Carolina J ^a   Rosenfeld, Jill A ^b   Wilken, Nathan R ^a   Vangapandu, Hima V ^a   Sahin, Aysegul ^a   Pham, Dung ^a   Carvalho, Claudia M B ^a   Bandholz, Anne ^b   Miller, Amanda ^c   Weaver, David D ^c   Burton, Barbara ^d   Babu, Deepti ^e   Bamforth, John S ^e   Wilks, Timothy ^f   Flynn, Daniel P ^g   Roeder, Elizabeth ^h   Patel, Ankita ^a   Cheung, Sau W ^a   Lupski, James R ^a   Lamb, Dolores J ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b PERKINELMER INC   (United States)

^c INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d CHILDREN'S MEMORIAL HOSPITAL   (United States)

^e UNIVERSITY OF ALBERTA   (Canada)

^f MADIGAN ARMY MEDICAL CENTER   (United States)

^g Pediatric Neurology of Idaho   (United States)

^h UNIVERSITY OF TEXAS HEALTH SCIENCE CENTER AT SAN ANTONIO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EH DOMAIN BINDING PROTEIN 1; HYPOPHYSIS HORMONE; MEMBRANE PROTEIN; PROTEIN OTX1; SONIC HEDGEHOG PROTEIN; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG; WD REPEAT CONTAINING PLANAR CELL POLARITY EFFECTOR PROTEIN; OTX1 PROTEIN, HUMAN; TRANSCRIPTION FACTOR OTX;

ADOLESCENT; ARTICLE; BLADDER EXSTROPHY; CHILD; CHROMOSOME 2P; CHROMOSOME DELETION; CLINICAL ARTICLE; COHORT ANALYSIS; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; COPY NUMBER VARIATION; DEVELOPMENTAL DISORDER; EPISPADIAS; GENETIC ASSOCIATION; GENOME SIZE; GONADAL DISEASE; GROWTH RETARDATION; HORMONE RELEASE; HUMAN; KNOCKOUT MOUSE; MALE; MOLECULAR PATHOLOGY; ORGANOGENESIS; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; SCHOOL CHILD; SEIZURE; SHORT STATURE; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; UROGENITAL TRACT MALFORMATION; ANIMAL; BLADDER; CHROMOSOME 2; CONGENITAL MALFORMATION; GENE DELETION; GENETICS; GENITAL SYSTEM; INFANT; MOUSE;

ADOLESCENT; ANIMALS; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 2; DEVELOPMENTAL DISABILITIES; GENITALIA; HUMANS; INFANT; MALE; MICE; OTX TRANSCRIPTION FACTORS; SEQUENCE DELETION; URINARY BLADDER; UROGENITAL ABNORMALITIES;

EID: 84937928776     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0107028     Document Type: Article

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