Author index

  • HOME
  • BROWSE ARTICLES
  • Author index
Author     
Sook Young Bae  (Bae SY) 1 Article
Case Report
Two cases of Smith-Magenis syndrome
Seong Kwan Jung, Kyu Hee Park, Hae Kyung Shin, So Hee Eun, Baik-Lin Eun, Kee Hwan Yoo, Young Sook Hong, Joo Won Lee, Sook Young Bae
Clin Exp Pediatr. 2009;52(6):701-704.   Published online June 15, 2009
SmithMagenis syndrome (SMS) is a rare disorder with multiple congenital anomalies caused by a heterozygous interstitial deletion involving chromosome 17p11.2, where the retinoic acid-induced 1 (RAI1) gene is located, or by a mutation of RAI1. Approximately 90% of the patients with SMS have a detectable 17p11.2 microdeletion on fluorescence in-situ hybridization (FISH). SMS is characterized by mental retardation, distinctive behavioral...
  • PubMed Central
  • PubMed
  • Scopus
  • Directory of Open Access Journals (DOAJ)


Close layer
prev next