Clinical utility gene card for: Williams-Beuren Syndrome [7q11.23]

Eur J Hum Genet. 2014 Sep;22(9). doi: 10.1038/ejhg.2014.28. Epub 2014 Feb 26.

Authors

Udo Koehler¹, Brigitte Pabst², Barbara Pober³, Beth Kozel⁴

Affiliations

¹ MGZ - Medizinisch Genetisches Zentrum, Munich, Germany.
² Institute for Human Genetics, Hannover Medical School, Hannover, Germany.
³ 1] Department of Pediatrics, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA [2] Department of Medical Sciences, Frank H Netter School of Medicine, Quinnipiac University, North Haven, CT, USA.
⁴ Department of Pediatrics, Washington University School of Medicine, St Louis, MO, USA.

No abstract available

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Chromosomes, Human, Pair 7 / genetics*
Genetic Loci
Genetic Testing*
Humans
Muscle Proteins / genetics
Mutation
NADPH Oxidases / genetics
Nuclear Proteins / genetics
Trans-Activators / genetics
Williams Syndrome / diagnosis
Williams Syndrome / genetics*

Substances

GTF2IRD1 protein, human
Muscle Proteins
Nuclear Proteins
Trans-Activators
NADPH Oxidases
neutrophil cytosolic factor 1