Deletion of the paternal allele of the imprinted MEST/PEG1 region in a patient with Silver–Russell syndrome features
✍ Scribed by T Eggermann; S Spengler; M Begemann; G Binder; K Buiting; B Albrecht; S Spranger
- Book ID
- 110889286
- Publisher
- John Wiley and Sons
- Year
- 2011
- Tongue
- English
- Weight
- 484 KB
- Volume
- 81
- Category
- Article
- ISSN
- 0009-9163
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## Communicated by Nancy B. Spinner Maternal uniparental disomy 14 [upd( 14)mat] is associated with a recognizable phenotype that includes preand postnatal growth retardation, neonatal hypotonia, feeding problems and precocious puberty. Chromosome 14 contains an imprinted gene cluster, which is re