Identification of additional transcripts in the Williams-Beuren syndrome critical region View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2002-03-28

AUTHORS

Giuseppe Merla, Catherine Ucla, Michel Guipponi, Alexandre Reymond

ABSTRACT

. Williams-Beuren syndrome (WBS) is a developmental disorder associated with haploinsufficiency of multiple genes at 7q11.23. Here, we report the characterization of WBSCR16, WBSCR17, WBSCR18, WBSCR20A, WBSCR20B, WBSCR20C, WBSCR21, WBSCR22, and WBSCR23, nine novel genes contained in the WBS commonly deleted region or its flanking sequences. They encode an RCC1-like G-exchanging factor, an N-acetylgalactosaminyltransferase, a DNAJ-like chaperone, NOL1/NOP2/sun domain-containing proteins, a methyltransferase, or proteins with no known homologies. Haploinsufficiency of these newly identified WBSCR genes may contribute to certain of the WBS phenotypical features. More... »

PAGES

429-438

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00439-002-0710-x

DOI

http://dx.doi.org/10.1007/s00439-002-0710-x

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1010451086

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/12073013


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