## Abstract PraderβWilli syndrome (PWS) is caused by loss of function of paternally expressed genes in the 15q11βq13 region and a paucity of data exists on transcriptome variation. To further characterize genetic alterations in this classic obesity syndrome using whole genome microarrays to analyze
Whole gene duplication of the PQBP1 gene in syndrome resembling Renpenning
β Scribed by Maureen Flynn; Ying S. Zou; Aubrey Milunsky
- Publisher
- John Wiley and Sons
- Year
- 2010
- Tongue
- English
- Weight
- 152 KB
- Volume
- 155
- Category
- Article
- ISSN
- 1552-4825
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Mutations in the human JAGGED1 gene cause Alagille syndrome, an autosomal dominant developmental disorder. The gene encodes a transmembrane protein which is a ligand of Notch receptors. We report 23 mutations in previously undescribed probands, including 15 novel mutations and 8 recurrent mutations.