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

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Year: 2010
Type: article
Study design: Observational Study
Source: Genetics in Medicine
DOI: 10.1097/gim.0b013e3181ef4286
Authors: Ruxandra Bachmann-Gagescu, Heather C. Mefford, Charles Cowan, Gwen M. Glew, Anne V. Hing, Stephanie Wallace, Patricia I. Bader, Aline Hamati, Pamela J. Reitnauer, Rosemarie Smith, David W. Stockton, Hiltrud Muhle, Ingo Helbig, Evan E. Eichler, Blake C. Ballif, Jill Rosenfeld, Karen D. Tsuchiya
Institutions: University of Washington, Parkview Health, Riley Hospital for Children, Indiana University, University of North Carolina at Chapel Hill, Maine Medical Center, Maine Medical Center, Barbara Bush Children’s Hospital, Wayne State University, Christian-Albrechts-Universität zu Kiel, University Hospital Schleswig-Holstein, Seattle Children's Hospital
Language: English

Topic: Genomic variations and chromosomal abnormalities
Subfield: Genetics
Field: Biochemistry, Genetics and Molecular Biology
Domain: Life Sciences
SDG: Good health and well-being

Open Access status: bronze

Funders: Howard Hughes Medical Institute, National Institute of General Medical Sciences
Award: G2371124573
OpenAlex ID: W1996642182
FWCI: 14.3
Cites: 35
Cited by: 232
Related to: 10
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