𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Interstitial 2q24.3 deletion including SCN2A and SCN3A genes in a patient with autistic features, psychomotor delay, microcephaly and no history of seizures

✍ Scribed by Celle, Maria Elena; Cuoco, Cristina; Porta, Simona; Gimelli, Giorgio; Tassano, Elisa


Book ID
121494279
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
297 KB
Volume
532
Category
Article
ISSN
0378-1119

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Interstitial deletion of 14q24.3-q32.2 i
✍ Sultan CingΓΆz; Iben Bache; Lise Bjerglund; Hans-Hilger Ropers; Niels Tommerup; H πŸ“‚ Article πŸ“… 2010 πŸ› John Wiley and Sons 🌐 English βš– 132 KB πŸ‘ 2 views

## Abstract Distal interstitial deletions of chromosome 14 involving the 14q24‐q23.2 region are rare, and only been reported so far in 20 patients. Ten of these patients were analyzed both clinically and genetically. Here we present a de novo interstitial deletion of chromosome 14q24.3‐q32.2 in a m