Benutzer: Gast  Login
Dokumenttyp:
journal article 
Autor(en):
Lenski, C; Kooy, RF; Reyniers, E; Loessner, D; Wanders, RJ; Winnepenninckx, B; Hellebrand, H; Engert, S; Schwartz, CE; Meindl, A; Ramser, J 
Titel:
The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior. 
Abstract:
Recently, we defined a new syndromic form of X-linked mental retardation in a 4-generation family with a unique clinical phenotype characterized by mild mental retardation, choreoathetosis, and abnormal behavior (MRXS10). Linkage analysis in this family revealed a candidate region of 13.4 Mb between markers DXS1201 and DXS991 on Xp11; therefore, mutation analysis was performed by direct sequencing in most of the 135 annotated genes located in the region. The gene (HADH2) encoding L-3-hydroxyacy...    »
 
Zeitschriftentitel:
Am J Hum Genet 
Jahr:
2007 
Band / Volume:
80 
Heft / Issue:
Seitenangaben Beitrag:
372-7 
Sprache:
eng 
Print-ISSN:
0002-9297 
TUM Einrichtung:
Frauenklinik und Poliklinik