Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity

Genetics in Medicine

Volumn 12, Issue 10, 2010, Pages 641-647

  Bachmann Gagescu, Ruxandra ^a,b,l   Mefford, Heather C ^a   Cowan, Charles ^c   Glew, Gwen M ^c   Hing, Anne V ^a   Wallace, Stephanie ^a   Bader, Patricia I ^d   Hamati, Aline ^e   Reitnauer, Pamela J ^f   Smith, Rosemarie ^g   Stockton, David W ^h   Muhle, Hiltrud ⁱ   Helbig, Ingo ⁱ   Eichler, Evan E ^c   Ballif, Blake C ^j   Rosenfeld, Jill ^j   Tsuchiya, Karen D ^c,k  

^a Division of Genetic Medicine   (United States)

^b Division of Medical Genetics   (Canada)

^c UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^d Parkview Hospital   (United States)

^e INDIANA UNIVERSITY   (United States)

^f UNIVERSITY OF NORTH CAROLINA   (United States)

^g Division of Genetics   (United States)

^h WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

ⁱ UNIVERSITY OF KIEL   (Germany)

^j PerkinElmer   (United States)

^k SEATTLE CHILDREN S HOSPITAL   (United States)

^l UNIVERSITY OF WASHINGTON   (United States)

more..

Author keywords

16p11.2; developmental delay; microdeletion; obesity; SH2B1

Indexed keywords

ARTICLE; BODY MASS; CHILD; CHROMOSOME 16P; CLINICAL ARTICLE; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; GENE; GENE DELETION; GENETIC ASSOCIATION; HUMAN; INFANT; OBESITY; PHENOTYPE; SH2B1 GENE;

ABNORMALITIES, MULTIPLE; ADAPTOR PROTEINS, SIGNAL TRANSDUCING; BODY MASS INDEX; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 16; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISABILITIES; DNA COPY NUMBER VARIATIONS; GENE DOSAGE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; INFANT; INFANT, NEWBORN; MENTAL RETARDATION; NUCLEIC ACID HYBRIDIZATION; OBESITY; PHENOTYPE; SEGMENTAL DUPLICATIONS, GENOMIC; SEQUENCE DELETION;

EID: 78049237730     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e3181ef4286     Document Type: Article

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