𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Detection of CHD7 deletions by MLPA in CHARGE syndrome patients with a less typical phenotype

✍ Scribed by Josephine Wincent; Astrid Schulze; Jacqueline Schoumans


Book ID
116433162
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
68 KB
Volume
52
Category
Article
ISSN
1769-7212

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Deletion of small nuclear ribonucleoprot
✍ Ishikawa, Tatsuya; Kibe, Tetsuya; Wada, Yoshiro πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 7 KB πŸ‘ 2 views

The small nuclear ribonucleoprotein polypeptide N (SNRPN) gene is regarded as one of the candidates for Prader-Willi syndrome (PWS). We describe two sibs with typical PWS presenting deletion of SNRPN detected by fluorescence in situ hybridization (FISH). Neither a cytogenetically detectable 15q12 de