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Clinical and Molecular Characterization of a Patient With an Interstitial Deletion of Chromosome 12q15-q23 and Peripheral Corneal Abnormalities

✍ Scribed by Mary Lillian Tocyap; Nathalie Azar; Teresa Chen; Janey Wiggs


Book ID
116200904
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
110 KB
Volume
141
Category
Article
ISSN
0002-9394

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Molecular and clinical characterization
✍ Gabriela Calounova; Petra Hedvicakova; Eva Silhanova; Gabriela Kreckova; Zdenek πŸ“‚ Article πŸ“… 2008 πŸ› John Wiley and Sons 🌐 English βš– 293 KB πŸ‘ 3 views

## Abstract Prader–Willi syndrome (PWS) is caused by the disturbed expression of genes from the imprinted region of 15q11‐q13, but the specific contributions of individual genes remain unknown. Most paternal PWS deletions are bracketed by recurrent breakpoints BP1 or BP2 and BP3. Atypical deletions