Recurrent HERV-H-Mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays

Human Mutation

Volumn 34, Issue 10, 2013, Pages 1415-1423

  Shuvarikov, Andrey ^a   Campbell, Ian M ^b   Dittwald, Piotr ^c,d   Neill, Nicholas J ^a,b   Bialer, Martin G ^e   Moore, Christine ^e   Wheeler, Patricia G ^f   Wallace, Stephanie E ^g   Hannibal, Mark C ^g,p   Murray, Michael F ^h,q   Giovanni, Monica A ^h,q   Terespolsky, Deborah ⁱ   Sodhi, Sandi ⁱ   Cassina, Matteo ^j   Viskochil, David ^k   Moghaddam, Billur ^l   Herman, Kristin ^m   Brown, Chester W ^b   Beck, Christine R ^b   Gambin, Anna ^c,n   Cheung, Sau Wai ^b   Patel, Ankita ^b   Lamb, Allen N ^o   Shaffer, Lisa G ^a,r   Ellison, Jay W ^a   Ravnan, J Britt ^a   Stankiewicz, Pawel ^b   Rosenfeld, Jill A ^a   more..

^a PERKINELMER INC   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c UNIVERSITY OF WARSAW   (Poland)

^d UNIVERSITY OF WARSAW   (Poland)

^e Northwell Health   (United States)

^f NEMOURS CHILDREN S HOSPITAL   (United States)

^g SEATTLE CHILDREN S HOSPITAL   (United States)

^h BRIGHAM AND WOMEN S HOSPITAL   (United States)

ⁱ CREDIT VALLEY HOSPITAL   (Canada)

^j UNIVERSITY OF PADOVA   (Italy)

^k UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^l University of California ^*  (United States)

^m UNIVERSITY OF CALIFORNIA   (United States)

ⁿ MOSSAKOWSKI MEDICAL RESEARCH CENTRE   (Poland)

^o ARUP LABORATORIES   (United States)

^p UNIVERSITY OF MICHIGAN   (United States)

^q GEISINGER HEALTH SYSTEM   (United States)

^r Paw Print Genetics Genetic Veterinary Sciences Inc   (United States)

more..

Author keywords

3q13; Developmental delay; HERV H; Hypotonia; Microarray; Microdeletion; NAHR; Recurrent

Indexed keywords

BOC PROTEIN; DRD3 PROTEIN; GAP43 PROTEIN; PROTEIN; UNCLASSIFIED DRUG; ZBTB20 PROTEIN;

ADOLESCENT; ADULT; ARTICLE; AUTISM; CHILD; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CLINICAL ARTICLE; COGNITIVE DEFECT; DNA SEQUENCE; ENDOGENOUS RETROVIRUS; EPICANTHUS; FACIES; FEMALE; GENE DUPLICATION; GENE MAPPING; GENETIC ASSOCIATION; HUMAN; LANGUAGE DELAY; MACROCEPHALY; MALE; MUSCLE HYPOTONIA; PALPEBRAL FISSURE ANOMALY; PRESCHOOL CHILD; PRIORITY JOURNAL; RARE DISEASE; RECURRENT DISEASE; SCHOOL CHILD;

HUMAN ENDOGENOUS RETROVIRUS; HUMAN ENDOGENOUS RETROVIRUS H;

3Q13; DEVELOPMENTAL DELAY; HERV-H; HYPOTONIA; MICROARRAY; MICRODELETION; NAHR; RECURRENT;

ADOLESCENT; ADULT; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CHROMOSOME BREAKPOINTS; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 3; COGNITION DISORDERS; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISABILITIES; ENDOGENOUS RETROVIRUSES; FACIES; FEMALE; GENE ORDER; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUSCLE HYPOTONIA; PHENOTYPE; SEQUENCE ALIGNMENT; SYNDROME; YOUNG ADULT;

EID: 84884532031     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22384     Document Type: Article

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