reported the first two cases of uniparental disomy (UPD) in men. Both patients were identified because of the observed autosomal recessive phenotype of cystic fibrosis (CF) resulting from homozygosity for a maternally inherited CFTR mutation. Prenatal and postnatal growth retardation in both patient
Clinical and molecular findings in two patients with Russell-Silver syndrome and UPD7: Comparison with non-UPD7 cases
✍ Scribed by Bernard, L.E.; Pe�aherrera, M.S.; Van Allen, M.I.; Wang, M.S.; Yong, S-L.; Gareis, F.; Langlois, S.; Robinson, W.P.
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- English
- Weight
- 70 KB
- Volume
- 87
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19991126)87:3<230::aid-ajmg7>3.0.co;2-s
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