Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]

Autor: Potocki, Lorraine, Shaw, Christine J., Stankiewicz, Pawel, Lupski, James R.
Zdroj: In Genetics in Medicine November-December 2003 5(6):430-434
Databáze: ScienceDirect